X-linked Ichthyosis Expand What is X-linked ichthyosis (XLI)? ‘Ichthyosis’ means dry, scaly skin, which may occur as a result of an inherited genetic condition. X-linked ichthyosis (XLI) is the second most common form of ichthyosis; the most common type of dry skin is called ichthyosis vulgaris. XLI affects approximately 1 in 6000 boys/men. It only usually occurs in males because it is caused by a genetic change on the X chromosome (see below “how is the condition inherited”). What are the signs? The severity of XLI varies. Babies with XLI may show no problem with their skin at birth but they may develop areas of scaling within the first few days, weeks or months of life. Most patients develop dry scaly skin by the age of 1 year and have the condition for the whole of their life. The scales in XLI tend to be brownish in colour. They are up to a few millimetres in size and may occur all over a patient’s body, particularly on the trunk, on skin at the back of the neck and on the outer parts of the arms and legs. XLI patients may find that the skin scaling is worse in winter than in summer because cold and dry weather tends to aggravate the condition. Sometimes XLI is associated with eye changes (corneal opacities) or testicular problems (undescended testicles) or rarely a delay in intellectual development. Ladies who are carriers of XLI do not have skin problems but they may have a long or difficult labour during childbirth. How is the condition inherited? XLI is an inherited (i.e. genetic) disorder so it runs in families. As the name suggests, XLI is linked to the X chromosome (sex chromosome). It is a recessive condition. This means that males may develop the disease but females are carriers of the disease. Men only have one X chromosome, so a baby boy with only one copy of the faulty gene will develop XLI. Women have two X chromosomes, so if a baby girl has one faulty copy of the XLI gene she is a carrier, but she is protected from developing the condition because her other X chromosome is normal. A mother with one copy of the faulty gene is a carrier of XLI and she can give birth to an affected son. Some (approximately 1 in 2) of her female babies will also be carriers. If the father has XLI, he cannot pass this on to his son, but his daughters will be carriers of XLI. Families affected by XLI may wish to discuss these chances of passing on the condition with their doctor or a specialist before expanding their family. What genes are affected? XLI is caused by changes in the STS gene which codes for an enzyme called steroid sulphatase. XLI patients have a lower level of STS in cells throughout their body. This is particularly important in the skin, where STS regulates the chemical changes that allow dead skin to be shed from the body. When this enzyme is lacking, the dead skin cells build up as brown scales. Low STS in the placenta is thought to cause long, difficult labour in some ladies who carry an STS mutation. How is the condition diagnosed? A doctor, for example a skin specialist doctor (dermatologist), will look for the characteristic skin changes seen in XLI. Blood tests may be used to confirm the diagnosis. A blood test can be taken to check the level of steroid sulphatase (STS). The STS level is very low or completely absent in a boy or man who has XLI. Ladies carrying XLI also have lower STS levels than normal. A blood test can also be taken for genetic analysis at a national reference laboratory to check for changes in the STS gene which lead to XLI. Prenatal diagnosis of XLI is now available so that changes in STS can be detected very early in pregnancy. However these procedures are not routinely provided, so families affected by XLI are advised to discuss any concerns with their doctor. Why is XLI sometimes misdiagnosed? It is quite common for newborn babies with XLI to have healthy-looking skin at birth, making immediate diagnosis of XLI difficult. Mild scaling does generally appear within the first few days following birth, but these signs may fade within a few weeks and may not appear again as true ichthyosis until later in life. Dry skin can also be a symptom of many other skin conditions, such as the more common ichthyosis vulgaris, or eczema or, rarely, an immune deficiency disease. Looking after patients with XLI As yet, there is no cure for XLI but continual lifelong care with moisturisers and other creams/ointments should help keep the skin as healthy as possible. Success of the treatments will depend on individuals and what works for one person may not work for another. Patients will need to consider different options to find the best for them. Moisturising creams and skin treatment It is very important that the skin is kept moisturised and that suitable emollients are applied frequently throughout the day. More greasy treatments, such as ointments, may be needed in the winter as this is when the skin tends to be at its driest. Creams or ointments containing lactic acid or urea may help to dissolve the visible scales on the skin of patients with XLI. However, these products can cause a baby’s or child’s skin to sting and so should be used with caution. The use of bath oils is important as bathing does not then cause drying or irritation of the skin and these are suitable for long-term use. Soaking in the bath for a period of time also tends to be more beneficial than a shower. In most cases, XLI is not considered severe enough to prescribe retinoid tablets as these treatments can have side effects. It is important to seek advice from a specialist dermatologist before using any new treatment for XLI to check that it is safe. More specific information on caring for the skin in XLI and other forms of ichthyosis can be found on our website. Treatment of associated conditions About half of males with XLI and some females who carry the condition develop cloudy spots in their eyes called “corneal opacities.” These are usually identified by an ophthalmologist (eye specialist) but they do not affect eyesight. STS plays an important role in the placenta, so some female carriers of XLI experience difficulties in labour, such as a slowed birth. Carriers of the condition should let their obstetrician know beforehand so they can be prepared for the possibility of a prolonged labour. In rare cases, the genetic change that results in XLI may affect other genes nearby, if a large section of DNA is deleted. Delayed growth, delayed intellectual development and delayed puberty have all been associated during school years with XLI. If you have concerns about these conditions with XLI, the patient should be assessed by a specialist doctor. Personal care Although scaling in XLI is usually less severe than some forms of ichthyosis, the brown appearance of these areas can cause a individual’s skin to look “unwashed”. This may lead to teasing or bullying by other children during school years if they do not understand the condition and can make it hard for the patient to build self-confidence. Consequently, extra support may be needed and general practitioners need to understand the psychological impact of the condition and provide adequate support to the family. This may require the involvement of other healthcare professionals. Further help There are a number of online forums about XLI where individuals can share their experiences and detail their own treatment recommendations. Not everything will work for everyone but they are a good place both to receive and offer support. Here's one family's experience of X-linked ichthyosis. Every family has different expepriences of the potential symptoms of this condition.
Dr Anna Martinez Expand How long have you been a dermatologist? I have been a Paediatric Dermatologist at Great Ormond Street Hospital since 2003. I qualified from St Bartholomew’s medical school in 1991 and did my training in North London What inspired you to follow this career path? I have always loved paediatrics and working with children and their families. My first paediatric dermatology job as a junior doctor at GOSH. The complexity and diversity of this specialty immediately drew me towards it and the need for expert multidisciplinary care Why is being a dermatologist and researcher important to you? I have always loved looking after children and families with rare diseases most of these are genetic for which there is no current treatment. research is the only way to offer the possibly of better treatments and hopefully a cure for these often-severe disorders What are the biggest challenges you face in your role? Trying to give best care possible whilst there are no effective treatments and driving clinical research with running clinical trials try and get better treatments available for patients What do you enjoy most about your job? I love working with my team, teaching but most of all the long-term relationships I have with my patients and their families Why did you become involved with the ISG? I have always had a special interest in looking after babies and children with ichthyses. I get contacted when most of the babies are born with congenital ichthyosis in South of England to try and provide the best care. Being part of the ISG provides lifelong support for families and individuals with ichthyoses. How do you raise awareness and signpost people towards the ISG? All the new families with ichthyoses are signposted to the ISG to join the support group and take part in all the many events and opportunities provided. Outside of your role what are your interests and hobbies? I have two children age 24 and 22 who I love spending time with and a cockerpoo Otis so long walks at the weekend are always fun. I love cooking and have over 100 house plants so that keeps me very busy!
Non Bullous Ichthyosis (CIE) Factsheet Expand Congenital Ichthyosiform Erythorderma (CIE) Ichthyosis describes dry, thickened, scaly or flaky skin. There are at least 28 different ichthyosis subtypes, which are mainly inherited (have a genetic cause). What is CIE? This is an extremely rare skin disorder characterised by abnormal scaling of the skin with underlying redness. It is estimated to occur in 1/300,000 births. Most affected individuals will be born as a “collodion baby”. See separate leaflet for further information about Collodion baby. What does it look like? The skin appears bright red (erythroderma) and has accompanying fine white or flesh coloured scales. The scaling often involves all of the skin although the skin on the face may show milder changes. In severe cases the lower eyelids are normally pulled down and outwards giving a red appearance. The condition appears in the first few days of life and usually lasts lifelong. The severity of CIE varies quite considerably. What is it caused by? It is caused by a genetic or inherited abnormality that affects normal skin shedding. There are a number of genes that cause CIE. Are there different types of CIE? Yes there are. Some individuals have a very persistent erythroderma whereas in others it fades significantly as they get older. Similarly the scaling varies in severity. It may be that the “diagnosis” of CIE actually covers a number of different distinct conditions known collectively as ARCI (Autosomal Recessive Congenital Ichthyosis). This may be clarified by a blood and/or genetic diagnosis. Classification of CIE. CIE is part of the group of ichthyoses known as Autosomal Recessive Congenital Ichthyoses, known by the acronym ARCI. This is a varied group and includes other ichthyoses such as Lamellar ichthyosis (LI) and the more severe Harlequin Ichthyosis (HI). This group is classified not only by its skin features, but also by the underlying genetic causes and the appearance of the skin cells under the microscope. LI is the most common clinical type and over half of ARCI patients have this form of ichthyosis. However, many patients do not exactly fit either the LI or CIE description as they may have features of both conditions. Therefore, it can be useful to think of these two conditions as different ends of a spectrum. What are the signs? Under normal circumstances, the skin acts as a type of barrier, maintaining a constant body temperature, while keeping moisture in and infection out. In CIE, however, this function is impaired and the skin becomes “leaky.” This leads to a loss of heat and moisture and makes the individual prone to infection. Sometimes babies with this condition have to stay in a hospital incubator for a while to prevent dehydration or infection and allow their skin to be kept moist at all times. The first year of life is the critical period and some children are often admitted to hospital with repeated infections and dehydration. Whether or not they are born with a “collodion membrane”, babies with CIE can appear “scalded” as their skin can be red (erythema). When the membrane is shed, the scaling associated with CIE is generally whiteish in colour and may resemble “fish-scales.” The scale is often large or “plate-like”, can affect the whole body. but may be larger on the legs. Patients with CIE may have thickened skin on the palms and soles of their feet (keratoderma) which may be mild but can be very thickened with painful cracks. Nails may often be thickened and in very severe cases, the rate at which nails grow may be affected. It is possible for CIE to cause problems in other areas of the body because the skin is so tight. The eyelids are often pulled outwards (everted), known as ectropion, which can cause the patient’s eyes to dry out. This may also make it hard for patients to sleep as the eyelids do not close properly. Reduced flexibility in the fingers and some hair loss (alopecia) has also been seen in CIE. As the thickened scaling can affect the way the sweat glands under the skin work, some patients with CIE may not sweat easily so can suffer from heat intolerance. They may overheat easily in hot weather or whilst doing sports. Cracking or splitting of the skin may lead to bacterial skin infections which could become generalised if not treated. How is the condition diagnosed? Symptoms vary from person to person but there are a number of common signs that doctors will check to differentiate CIE from other skin conditions. For the first few days or weeks following birth, babies with CIE have a “collodion membrane”, a clear but tight film which covers the baby’s skin. (This condition is also seen in other forms of ichthyosis). The skin will have large, whiteish “scales” all over the body which have a “plate-like” or “fish-scale” appearance. Thickening of the palms and soles of the feet is possible. There is likely to be obvious redness of the skin. A small piece of skin (a skin biopsy) may be taken to check for certain proteins commonly associated with CIE, such as transglutaminase 1 (TGM1). However, problems with these proteins can also be seen in other forms of ichthyosis. A skin biopsy is usually done by a dermatologist rather than a GP or paediatrician. A blood test can also be taken (and sent to a national reference laboratory) to check for a fault in certain genes. Mutations in 11 genes are currently known to cause ARCI with TGM1 and ALOX12B being the most common. However, some people with ichthyosis will have faults in genes that are not yet known about, and this test may be negative. Why is CIE sometimes misdiagnosed? Occasionally patients are not diagnosed for months or even years as scaly and red skin can be a symptom of many other skin conditions, such as severe eczema or immune deficiency disease. It is important that CIE is considered in any persistently red baby to avoid misdiagnosis or incorrect treatment. The skin of newborns with CIE can also closely resemble another form of ichthyosis called Lamellar ichthyosis, where redness of the skin tends to be less pronounced and the flaky whiteish scaling more apparent, making it difficult to distinguish between the two until later in life. Managing CIE As yet, there is no cure for CIE but continual lifelong care with moisturisers and anti-infection treatments should help keep the skin as healthy as possible. Success of the treatments will depend on individuals, and what works for one person may not work for another. Patients will need to consider different options to find the best for them. Moisturising creams and skin treatment It is very important that the skin is kept moisturised at all times and that greasy, moisturising creams and ointments are applied frequently throughout the day. Moisturising agents should be perfume-free and without additives to avoid any allergic reactions. Bath oils are important so that bathing does not cause drying or irritation of the skin. Bathing is considered to be more beneficial than showering. Emollients and keratolytic (anti-scaling) creams which contain urea, and/or lactic acid and propylene glycol (see product’s ingredients label for these) can be used to keep the skin as moist and hydrated as possible, however keratolytics can cause irritation if applied to inflamed and/or broken skin. Steroid creams should be avoided as these do not help the skin. Antibiotics are also important to treat secondary skin infections and gentle antiseptics can provide the skin with additional protection. Washing with an emollient containing an antimicrobial agent may help minimise the risk of skin infection. It is important to check with your doctor or pharmacist before trying any new treatment. It is advisable to patch test any new cream for sensitivity before general use, and even “herbal” and “natural” creams may contain unsuitable ingredients. Oral treatment (tablets) may be needed in severe ichthyosis. A group of drugs known as retinoids (synthetic vitamin A derivatives) are sometimes used (e.g. acitretin). They can reduce the thickness of the scale and help improve the appearance by reducing the overactive growth of the outer skin layer. Although often effective, they have a number of side-effects which should be fully discussed and considered before starting the tablet. Monitoring blood tests are needed while taking retinoid tablets, and pregnancy must be avoided as the drug can severely damage any unborn baby (teratogenic). More specific information on caring for the skin, eyes and ears in CIE and other forms of ichthyosis can be found on the Ichthyosis Support Group website at www.ichthyosis.org.uk Eye treatment Some patients find that using moisturising eye drops can help prevent the eyes from becoming too dry. An ophthalmologist (eye doctor) may be contacted if ectropion (everted eyelids) is preventing the eyelids from closing at night but surgery for this condition is not generally recommended. Ear treatment Patients may experience a build up of dead skin in their ears and regular appointments with the Ear, Nose and Throat department at the local hospital should help to prevent problems such as potential impaired hearing. Physiotherapy Patients with CIE may have problems with flexibility in their fingers, known as contractures. This is when the elastic tissue in these appendages is replaced with non-elastic tissue. Some individuals find that physiotherapy and splinting at night can help relieve this problem. Personal care Apart from keeping the skin hydrated and moisturised at all times, patients may get tired and overheated quickly when doing active sports (e.g. running, football etc). They may need to rest more than other individuals and teachers should be aware of this so they do not push children to continue participating. Individuals should be given the flexibility to access fluids throughout the day and not just when participating in sporting activities. Peeling skin, particularly on the face can be difficult for building self-confidence so individuals may need extra support. General practitioners need to understand the psychological impact of the condition and provide adequate support to the family, which may require the involvement of other health professionals. Individuals may experience hair loss, or restricted hair growth due to the thick scaling in CIE, and patients should manage their scalp to lessen the scaling where possible. Please see our leaflet for advice about how to look after your scalp. How is the condition inherited? CIE is an inherited (i.e genetic) disorder so it runs in families. It is a condition passed on by parents with normal skin who both carry a copy of the faulty gene (autosomal recessive). They will not have CIE but they will be a carrier of the condition and may pass on their faulty gene. A child inheriting one faulty gene will be a carrier like their parent, but a child inheriting a faulty gene from each parent will have CIE. The risk of any further child being affected is 25% or a 1 in 4 chance. An individual with CIE will always pass on a faulty copy of the gene to their children. However, unless the partner is a carrier, or has CIE themselves (which is more likely to occur within the same family), their children will only be carriers and will not have LI. Families affected by CIE who would like genetic counselling should ask their GP to refer them to a clinical geneticist. Further help There are a number of online forums about LI where individuals can share their experiences and detail their own treatment recommendations. Not everything will work for everyone but they can be a good place both to receive and offer support. Contact the Ichthyosis Support Group for information, advice, details on useful products, and to be connected with other people to share experiences and helpful advice. Download The Congenital Ichthyosiform Erythroderma Factsheet To find out more about the ISG or become a member please get in touch in one of the following ways: By Phone 0800 368 9621 By Email: [email protected] Facebook: facebook.com/ichthyosissupportgroup Twitter: twitter.com/ISG_Charity
Eye Management in Ichthyosis Expand Ichthyosis and eye care Raman Malhotra Consultant Ophthalmic and Oculoplastic Surgeon Corneoplastic Unit Queen Victoria Hospital NHS Foundation Trust Importance of eye care in ichthyosis The primary aim of eye care for adults and children with ichthyosis is to maintain moisture, integrity and clarity of the cornea (transparent part of the eye) and surface of the eye. There is a high risk of the cornea becoming dry and developing an epithelial defect (a breach in its protective surface) that may result in an infection of the cornea. Infections of the cornea may result in a scar that reduces the clarity of the eye, or at worst a perforation of the cornea. The surface of the cornea requires a moist tear-film on its surface in order to provide a clearer-than-glass window for vision. Blinking is a natural method of ensuring this moist tear-film is smoothly spread and maintained over the entire surface of the eye. Any redness of the eye should raise suspicion of dryness, particularly if blink or normal full eyelid closure is incomplete, as is often seen in ichthyosis. In addition, the first 8-9 years of life also represents the critical period for visual development. During this period, the brain requires the clearest image to be transmitted through the eye in order for the visual pathway (circuit from eye to brain) to develop into a high-definition visual system. Any prolonged blurring of vision, due to a scarred or hazy cornea or any uncorrected refractive error (not wearing glasses for long-sightedness, astigmatism or even short-sightedness) during this period will result in vision that will remain blurred throughout one’s adult life. Thankfully, with the involvement of an ophthalmologist (eye specialist) this can be identified and treated, or better still, avoided. It is therefore rare nowadays to occur. In adults, a contrary response to evaporative-type dry eye is reflex tearing. This may be considered as the body’s response in attempting to lubricate the drying surface of the eye. Individuals who experience this may not have significant symptoms of ocular discomfort or redness of the eye. Reflex tearing may occur outdoors in cold and windy weather or in a dry, air-conditioned environment. The eyes may remain white in appearance, or in extreme conditions become pink. However, they seldom become red or cause pain. Preservative-free ocular lubrication. If incomplete blink or eyelid closure exists, then regular eye lubrication with artificial tears is essential. Preservatives are a legal requirement for eye drops in multi-dose containers and may be necessary for stabilization of eye drops. However, they often act in a non-specific manner as detergents or for unknown reasons occasionally cause side-effects on the surface of the eye such as redness, inflammation, irritation and discomfort. Prolonged use of certain preservatives (i.e. Benzalkonium chloride, BAK) on the eye may cause long-term surface scarring due to toxicity. Preservative-free artificial tear eye drops are strongly recommended for patients who require frequent eye drops. Examples of lubricants to use include 0.5–1% carboxymethylcellulose, hyaluronic acid (HA) or carmellose-sodium, and petroleum ointment at night if nocturnal lagophthalmos (incomplete eye closure when sleeping) exists. These are available under many brand names. As a principle, eye drops are used in the day and an ointment at night. If blink or eyelid closure is incomplete, then frequency of drops required may be intensive (even every 30 minutes or less). This regime will be guided by your ophthalmologist (specialist eye doctor). In certain situations, ointment may be necessary during the day to ensure a moist eye surface and white-eye is maintained. General measures Room humidifiers help maintain a moist environment for dry eyes. A meta-analysis including 7 trials, aimed to evaluate the effect of a moisture chamber compared with lubrication for corneal protection in critically ill patients concluded the use of moisture chambers is associated with more effective corneal protection compared with lubrication alone but no statistically significant difference between the use of moisture chambers and lubricating ointments. (Zhou Y et al. 2014) Intensive ointments however, can significantly blur vision and are not practical as a permanent, long-term option. Wrap-around glasses for dry eyes are an excellent method of increasing humidity around the surface of the eye, in order to create a moisture chamber effect. These are an ideal style of spectacle frame when spectacle-wear is necessary, for adults and children with ichthyosis. In addition, they are an excellent choice of frame for sunglasses. Eyelid moisturising and stretching Conservative treatment with intensive ocular lubricants, eyelid emollients and massage can result in improvement of eyelid ectropion and to some degree retraction of the eyelid. Retraction of the eyelid describes how in addition to the eyelid being turned out (ectropion), it is usually pulled down (or, retracted) due to tight skin. The upper eyelid may also be retracted (or pulled up), preventing eyelid closure during blink, or when asleep. Regular stretching of the eyelid skin and application of eyelid emollients can avoid the need for eyelid surgery in mild forms of congenital ichthyosis. Resolution of ectropion of all 4 eyelids (that was more obvious during enforced eyelid closure) was reported in a premature male baby with frequent application of eyelid ointment and spontaneous desquamation. (Menke TB et al. 2006) Severe ectropion of all 4 eyelids in a child with Lamellar ichthyosis (LI) was reported to have reduced with preservation of the ocular surface using regular lubricant drops, vitamin A ointment and intermittent topical antibiotic therapy. No surgery was required during the reported follow-up period. (Elshtewi M and Arche DB 1991) Another example has been reported (Oestreicher JH and Nelson CC 1990) in 2 infants with LI, aged 2 and 6 weeks, with ectropion and retraction of all 4 eyelids causing signs of drying of the cornea. Ectropion improved within 3 months with conservative treatment of ocular lubricants, eyelid emollients and massage. Based upon the photographs in their report, eyelid retraction still existed as would have incomplete blink closure, however this required lubricants only within the follow-up period reported. Some improvement with conservative management including humidified air and emulsifying agents was reported in another case. (Leung PC and Ma GF 1981) However, the child still required skin grafts to all 4 eyelids and repeat grafts 18-months later due to recurrence. Evidence does suggest, therefore, that consistent and life-long vertical lid massage and stretching may help delay progression or recurrence of ectropion due to retraction of the eyelid. Meibomian gland dysfunction Meibomian gland dysfunction (MGD) is likely to occur in most cases of ichthyosis even if not specifically documented. The meibomian glands exist on the eyelid margin and normally produce the oily layer of the tear film. Absence of the normal oily layer of the tear film causes the tears to evaporate too quickly. This contributes to evaporative-type dry eye further and to symptoms of photophobia (intolerance to bright lights) and discomfort, soreness or itchiness of the eyes. This can increase the likelihood of the presence of corneal punctate staining (evidence of drying of the cornea when examined by an eye specialist) and even corneal scarring. At best, MGD may simply increase symptoms of reflex tearing without any eye discomfort. Simple treatment options for MGD involves a daily regime of expressing the oily tears from the glands using hot compresses. A face cloth, or cotton pads, soaked in hot (not boiling) water may be used. On closed eyes, hold the hot cloth onto the eyelids. Wet the cloth again with hot water and keep applying the compress for at least five minutes. This can be carried out daily, perhaps in the evening. Products known as ‘heat bags’ that are specifically designed for this condition may be easier to use with more prolonged heat. These bags make it easier to direct the heat and are much more effective than a hot cloth. Examples include the MGDRx EyeBag®, the Eyevolve Mask® or the OPTASE™ Heat Mask. There is also evidence of a benefit in maintaining optimum levels of omega-3 essential fatty acids in the diet for improving MGD. (Macsai MS 2008) It is also suggested that individuals should return to a more desirable omega-6 to omega-3 ratio of 4:1 rather than the ratio of 15–18:1 provided by current Western diets. This entails decreasing the intake of omega-6 fatty acids from vegetable oils and to increase the intake of omega-3 fatty acids by using oils rich in omega-3. Experimental studies suggest that dietary supplementation of omega-3 fatty acids modifies inflammatory and immune reactions. (Macsai MS 2008) More carefully designed and controlled clinical trials to determine the real benefit of omega-3 fatty acids in MGD and evaporative-type dry eye are still needed, but the current medical consensus recommends a trend towards this diet for dry eye patients, if given a preference. Topical cutaneous N-acetylcysteine emollient Topical N-acetylcysteine has anti-proliferative effects on keratinocytes both in-vitro and in-vivo. It may have a role in the management of eyelid ectropion in children with Lamellar ichthyosis. Bassoti et al (Bassoti A et al 2011) reported the use of topical 10% N-acetylcysteine emulsion prepared in urea 5% in 5 children with LI. The emollient was applied twice daily for 6 weeks, followed by a daily maintenance application including the eyelids without any irritation (provided the skin had no fissures). With up to 4-years follow-up, they observed a significant improvement in all treated areas after 4 months of maintenance application. Only two patients showed mild adverse effects such as itchiness (resolving after a few days in one patient), and light burning and irritation that regressed a few days after tapering N-acetylcysteine to 5% on the facial application. Gicquel et al (Gicquel JJ et al. 2005) reported what they described to be complete resolution of ectropion with adjunctive topical N-acetylcysteine in an 8-week-old boy with LI and severe bilateral ectropion. Bilateral sight-threatening upper eyelid ectropion persisted whilst receiving initial treatment with only oral acitretin for 1 month until N-acetylcysteine was added, thus avoiding the need for surgery. Deffenbacher (Deffenbacher B 2013) reported the initial use of 10% N-acetylcysteine and 5% urea in a newborn with LI, who initially failed to improve with standard treatment of topical emollients. After 3 days of once daily use, the mother noted some decreased thickness of scales, but also noted increased skin sensitivity and erythema. The 10% cream was discontinued. Two-days after discontinuation of the topical treatment, it was noted that the skin was less tight and scales were less thick than the month before. A less-potent mixture with 5% N-acetylcysteine and 5% urea compounded in a moisturising skin cream in addition to the continued frequent use of emollients was commenced. One month later, the infant was able to close his eyes whilst sleeping and had significantly improved with only mild erythema. At 7 and 12-months, continued improvement was observed in scaling and eyelid involvement. Topical retinoids to treat eyelid ectropion Systemic retinoids modulate keratinocyte differentiation and proliferation with only a modest therapeutic effect in eyelid ectropion or retraction due to ichthyosis (Diaz LZ et al. 2013). Tazarotene, a topical retinoid, works via binding of retinoic acid receptors in the skin. The beneficial use of tazarotene in congenital ichthyosis has been reported (Hofmann B et al 1999, Stege H et al. 1998, Marulli GC et al. 2003, Kundu RV et al 2006). Craiglow et al (Craiglow BG et al. 2013) reported the use of topical tazarotene cream, 0.1%, applied once daily to the face and eyelids in a 77-year old female with autosomal recessive ichthyosis and bilateral lower eyelid cicatricial ectropion. A rapid improvement within 2-weeks was observed and reported at 12 and 30-months of treatment. In their report, the authors also mentioned a 45-year-old man with severe LI and symptomatic ectropion who was reluctant to take oral retinoids and whose ectropion and tearing significantly improved with topical retinoid and later tazarotene cream, applied to the lower eyelids. Surgical treatments Patients with chronic corneal involvement or persistent corneal dryness require specialist eye care. Severe or persistent ectropion requires correction and this may involve increasing the amount of eyelid skin available for eyelid closure. For the best outcomes, an experienced ophthalmic plastic surgeon (or oculoplastic surgeon) should be involved. Eyelid skin grafting Eyelid skin grafting is generally undertaken where symptomatic corneal exposure or watering persists despite adequate conservative skin treatments. It should also ideally be undertaken before scarring of the ocular surface occurs. Skin grafts are the most commonly reported surgical intervention for ichthyosis ectropion. The successful use of both full-thickness and split-thickness autologous skin grafts have been reported in correcting either eyelid ectropion, or retraction. Harvest sights for full-thickness grafts include the upper arm, behind the ear, collar bone region, thigh, groin, and even penile foreskin. Regardless of harvest site, repeat surgery due to skin graft contracture is often necessary. In one reported article, 4 patients required 19 surgical graft procedures, 10 of which were to upper eyelids involving grafts harvested from inner arm, behind the ear, the collar bone region and groin sites. Split-thickness skin grafts in a 25-year old has also been reported. Successful use of behind-the-ear and thigh full-thickness skin grafts have also been reported in 6-week and 6-month old babies, respectively, with Harlequin ichthyosis. Oral buccal mucous membrane autogenous graft Based upon the observation that in long-standing eyelid ectropion, keratinizing squamous metaplasia occurs in the tarsal conjunctiva (transformation of the inner moist lining of the eyelid to become a skin-like surface), in 2001, Soparkar and Patrinely (Soparkar DN and Patrinely JR 2001) wrote a letter describing and recommending the use of oral buccal mucous membrane (the moist inner lining of the cheek) in preference to skin for grafts of 1.5 cm or less of vertical height. This avoids delayed-healing donor-sites as oral mucosa is unaffected by ichthyosis. The authors did not report any specific cases in their letter but reported that they have used this approach for many years and showed photographs of an 8 year-old boy, 2 months and 2 years post upper and lower grafting, respectively. Once implanted into the eyelid, mucous membrane grafts rapidly keratinize (become like skin) with little desquamation or significant contraction. Nayak et al (Nayak S et al. 2011) have also reported the use of oral mucosal grafts as a skin substitute in a 26-year old female with LI and ectropion of all 4 eyelids. Left upper and lower eyelid defects were grafted from the left cheek and 4-months later, right eyelids from the right cheek. In the absence of available autologous skin, where non-surgical methods have proven in-effective, oral buccal mucous membrane autografts are a useful source of tissue to expand the eyelid skin layer. Hyaluronic acid gel filler In 2009, Taban et al (Taban M et al. 2009) reported their early experience using hyaluronic acid gel fillers as a nonsurgical alternative in the management of congenital eyelid malpositions including eyelid retraction, ectropion and other eyelid disorders. Filler helps improve eyelid position by tissue-expansion and reinforcement to improve eyelid closure, with faster recovery and fewer complications in comparison to traditional surgical procedures. Five patients treated demonstrated significant improvement of eyelid position and degree of corneal dessication with a mean improvement in the gap of incomplete eyelid closure of 4.5 mm (range, 2–7 mm) using an average of 0.5 ml hyaluronic acid gel per eyelid. Complications were minor, including transient swelling and bruising at the sites of injection. In 2015, my team (Litwin AS et al. 2015) reported the use of this technique in 3 boys (4-months to 3-years of age) with LI and sight-threatening eyelid retraction and cicatricial ectropion of all 4 eyelids. In 2 cases treated by myself, Restylane-Lidocaine® (Galderma, UK) 1 mL per eyelid was used successfully with resolution or good improvement of lagophthalmos, corneal exposure and visual acuity and no repeat eyelid procedures required after 7 and 18 months, respectively. In the third, less successful case treated in Leeds, Restylane SubQ®(Galderma, UK) was used. However, SubQ® is not an ideal choice for use in the eyelid as it contains 1,000 molecules per 1ml, in comparison to 100,000 molecules per 1 ml for Restylane Lidocaine®, making it significantly denser and more viscous. It is better intended for deep subcutaneous or pre-periosteal injection to allow more extensive facial volume augmentation and structural support. This patient underwent repeat injections 5 and 12 months later, finally requiring skin grafts. The technique for hyaluronic acid injections is similar to that described by Taban et al (Taban M et al. 2009). Injections can be performed under general anaesthesia for children at the same time as an examination. It can be an effective, repeatable method of eyelid expansion in ichthyosis that can act as a good temporising method, often delaying the need for more invasive surgical procedures. It can give rise to the appearance of fullness of the eyelid. It should however, only be undertaken by those experienced with fillers in the eyelid region. Conclusion This article provides advice and evidence for current options available for the eye care of patients with ichthyosis. It may also prove useful when discussing options available for your child or yourself with your specialist team of doctors. Simple measures such as humidifiers, wrap-around glasses, regular vision checks until the age of 9-years of age, preservative-free lubricants, eyelid emollients and stretching and MGD treatment are essential. Newer options such as topical N-acetylcysteine emollient and topical retinoids may be discussed with your dermatologist. When faced with the prospect of surgery, options such as buccal membrane grafts and eyelid filler may also be considered as alternatives to skin grafts, at least in the first instance. Life long eye care is often required for dry eyes. The currently available options outlined above are applicable to both children and adults. References (in order of appearance): Zhou Y, Liu J, Cui Y, Zhu H, Lu Z. Moisture chamber versus lubrication for corneal protection in critically ill patients: a meta-analysis. Cornea. 2014 Nov;33(11):1179-85. Menke TB, Moschner S, Joachimmeyer E, Ahrens P, Geerling G. [Congenital ectropion in ichthyosis congenita mitis and gravis]. Ophthalmologe. 2006 May;103(5):410-5. Elshtewi M, Archer DB.Congenital ichthyosis in a Libyan child with ophthalmic manifestations. Int Ophthalmol. 1991 Sep;15(5):343-5. Oestreicher JH, Nelson CC. Lamellar ichthyosis and congenital ectropion. Arch Ophthalmol. 1990 Dec;108(12):1772-3. Leung PC, Ma GF. Ectropion of all four eyelids associated with severe ichthyosis congenita: a case report. Br J Plast Surg. 1981 Jul;34(3):302-4. Bassoti A, Moreno S, Criado E. Successful treatment with topical N-acetylcysteine in urea in five children with congenital lamellar ichthyosis. Pediatr Dermatol 2011;28:451–5. Gicquel JJ, Vabres P, Dighiero P. [Use of topical cutaneous N-acetylcysteine in the treatment of major bilateral ectropion in an infant with lamellar ichthyosis]. J Fr Ophtalmol. 2005 Apr;28(4):412-5. Deffenbacher B. Successful experimental treatment of congenital ichthyosis in an infant. BMJ Case Rep. 2013 Mar 6;2013. pii: bcr2013008688. doi: 10.1136/bcr-2013-008688. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3618798/ Macsai MS. The Role of Omega-3 Dietary Supplementation in Blepharitis and Meibomian Gland Dysfunction (An AOS Thesis) Trans Am Ophthalmol Soc. 2008 Dec; 106: 336–356. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2646454 Diaz LZ, Browning JC, Smidt AC, Rizzo WB, Levy ML. Complications of ichthyosis beyond the skin. Dermatol Ther. 2013 Jan-Feb;26(1):39-45. doi: 10.1111/j.1529-8019.2012.01517.x. Hofmann B, Stege H, Ruzicka T, Lehmann P. Effect of topical tazarotene in the treatment of congenital ichthyoses. Br J Dermatol. 1999;141(4):642-646 Stege H, Hofmann B, Ruzicka T, Lehmann P. Topical application of tazarotene in the treatment of nonerythrodermic lamellar ichthyosis. Arch Dermatol. 1998;134(5):640. Marulli GC, Campione E, Chimenti MS, Terrinoni A, Melino G, Bianchi L. Type I lamellar ichthyosis improved by tazarotene 0.1% gel. Clin Exp Dermatol. 2003;28(4):391-393 Kundu RV, Garg A, Worobec SM. Lamellar ichthyosis treated with tazarotene 0.1% gel. J Am Acad Dermatol. 2006;55(5):(suppl) S94-S95 Craiglow BG, Choate KA, Milstone LM. Topical tazarotene for the treatment of ectropion in ichthyosis. JAMA Dermatol. 2013 May;149(5):598-600. doi: 10.1001/jamadermatol.2013.239. http://archderm.jamanetwork.com/article.aspx?articleid=1688078 Soparkar CN, Patrinely JR, Hunt MG, et al. Transforming mucous membrane grafts into skin grafts. Ophthalmology 2001;108:1933–4. Nayak S, Rath S, Kar BR. Mucous membrane graft for cicatricial ectropion in lamellar ichthyosis: an approach revisited. Ophthal Plast Reconstr Surg. 2011 Nov-Dec;27(6):e155-6. Taban M, Mancini R, Nakra T, Velez FG, Ela-Dalman N, Tsirbas A, Douglas RS, Goldberg RA.Nonsurgical management of congenital eyelid malpositions using hyaluronic Acid gel. Ophthal Plast Reconstr Surg. 2009 Jul-Aug;25(4):259-63. Litwin AS, Kalantzis G, Drimtzias E, Hamada S, Chang B, Malhotra R. Nonsurgical treatment of congenital ichthyosis cicatricial ectropion and eyelid retraction using Restylane hyaluronic acid. Br J Dermatol. 2015 Aug;173(2):601-3. Download The Eye Management Factsheet To find out more about the ISG or become a member please get in touch in one of the following ways: By Phone: 0800 368 9621 By Email: [email protected] Facebook: facebook.com/ichthyosissupportgroup Twitter: twitter.com/ISG_Charity
Lamellar Ichthyosis Factsheet Expand What Is ichthyosis? Ichthyosis describes dry, thickened, scaly or flaky skin. There are at least 28 different ichthyosis subtypes, which are mainly inherited (have a genetic cause). This information has been written to help you understand more about Lamellar Ichthyosis (LI). Classification of Lamellar Ichthyosis LI is part of the group of ichthyoses known as Autosomal Recessive Congenital Ichthyoses, known by the acronym ARCI. This is a varied group and includes other ichthyoses such as Congenital Ichthyosiform Erythroderma (CIE) and the more severe Harlequin Ichthyosis (HI). This group is classified not only by its skin features, but also by the underlying genetic causes and the appearance of the skin cells under the microscope. LI is the most common clinical type and over half of ARCI patients have this form of ichthyosis. However, many patients do not exactly fit either the LI or CIE description as they may have features of both conditions. Therefore, it can be useful to think of these two conditions as different ends of a spectrum. What is Lamellar Ichthyosis? LI is a very rare inherited skin condition, often presenting at birth or in the first few weeks of an individual’s life. It occurs only once in approximately every 200,000 live births. Newborn babies with LI usually present with a “collodion membrane”, a tight but clear film covering their skin, sometimes referred to as a “collodion baby” This tends to shed after a few days or weeks. The skin will then become very red and be covered by large, plate-like areas of dark scaling all over the body. LI is a life-long condition and individuals tend to stay scaly throughout life but the severity can vary from person to person. In very rare cases, newborns with particularly severe symptoms may not survive. What are the signs? Under normal circumstances, the skin acts as a type of barrier, maintaining a constant body temperature, while keeping moisture in and infection out. In LI, however, this function is impaired and the skin becomes “leaky.” This leads to a loss of heat and moisture and makes the individual prone to infection. Sometimes babies with this condition have to stay in a hospital incubator for a while to prevent dehydration or infection and allow their skin to be kept moist at all times. The first year of life is the critical period and some children are often admitted to hospital with repeated infections and dehydration. Whether or not they are born with a “collodion membrane”, babies with LI can appear “scalded” as their skin can be red (erythema). When the membrane is shed, the scaling associated with LI is generally dark or brownish in colour and may resemble “fish-scales.” The scale is often large or “plate-like”, can affect the whole body but may be larger on the legs. Patients with LI tend to have thickened skin on the palms and soles of their feet (keratoderma) which may be mild but can be very thickened with painful cracks. Nails may often be thickened and in very severe cases, the rate at which nails grow may be affected. It is also common for LI to cause problems in other areas of the body because the skin is so tight. The eyelids are often pulled outwards (everted), known as ectropion, which can cause the patient’s eyes to dry out. This may also make it hard for patients to sleep as the eyelids do not close properly. Reduced flexibility in the fingers and some hair loss (alopecia) has also been seen in LI. As the thickened scaling can affect the way the sweat glands under the skin work, some patients with LI may not sweat easily so can suffer from heat intolerance. They may overheat easily in hot weather or whilst doing sports. Cracking or splitting of the skin may lead to bacterial skin infections which could become generalised if not treated. How is the condition diagnosed? Symptoms vary from person to person but there are a number of common signs that doctors will check to differentiate LI from other skin conditions. For the first few days or weeks following birth, babies with LI have a “collodion membrane”, a clear but tight film which covers the baby’s skin. (This condition is also seen in other forms of ichthyosis). The skin will have large, dark “scales” all over the body which have a “plate-like” or “fish-scale” appearance. Thickening of the palms and soles of the feet is common. There may be slight redness of the skin but this is less prominent in LI compared to other types of ichthyoses. Patients with LI may have nails which are curved or thickened, and may resemble “sandpaper”. This is known as nail dystrophy. In LI, nails may grow either faster or slower than normal. A small piece of skin (a skin biopsy) may be taken to check for certain proteins commonly associated with LI, such as transglutaminase 1 (TGM1). However, problems with these proteins can also be seen in other forms of ichthyosis. A skin biopsy is usually done by a dermatologist rather than a GP or paediatrician. A blood test can also be taken (and sent to a national reference laboratory) to check for a fault in certain genes. Mutations in 11 genes are currently known to cause ARCI with TGM1 and ALOX12B being the most common. However, some people with ichthyosis will have faults in genes that are not yet known about, and this test may be negative. Why is Lamellar Ichthyosis sometimes misdiagnosed? Occasionally patients are not diagnosed for months or even years as scaly and red skin can be a symptom of many other skin conditions, such as severe eczema or immune deficiency disease. It is important that LI is considered in any persistently red baby to avoid misdiagnosis or incorrect treatment. The skin of newborns with LI can also closely resemble another form of ichthyosis called CIE, where redness of the skin tends to be more pronounced, making it difficult to distinguish between the two until later in life. Managing Lamellar Ichthyosis As yet, there is no cure for LI but continual lifelong care with moisturisers and anti-infection treatments should help keep the skin as healthy as possible. Success of the treatments will depend on individuals, and what works for one person may not work for another. Patients will need to consider different options to find the best for them. Moisturising creams and skin treatment It is very important that the skin is kept moisturised at all times and that greasy, moisturising creams and ointments are applied frequently throughout the day. Moisturising agents should be perfume-free and without additives to avoid any allergic reactions. Bath oils are important so that bathing does not cause drying or irritation of the skin. Bathing is considered to be more beneficial than showering. Emollients and keratolytic (anti-scaling) creams which contain urea, and/or lactic acid and propylene glycol (see product’s ingredients label for these) can be used to keep the skin as moist and hydrated as possible, however keratolytics can cause irritation if applied to inflamed and/or broken skin. Steroid creams should be avoided as these do not help the skin. Antibiotics are also important to treat secondary skin infections and gentle antiseptics can provide the skin with additional protection. Washing with an emollient containing an antimicrobial agent may help minimise the risk of skin infection. It is important to check with your doctor or pharmacist before trying any new treatment. It is advisable to patch test any new cream for sensitivity before general use, and even “herbal” and “natural” creams may contain unsuitable ingredients. Oral treatment (tablets) may be needed in severe ichthyosis. A group of drugs known as retinoids (synthetic vitamin A derivatives) are sometimes used (e.g. acitretin). They can reduce the thickness of the scale and help improve the appearance by reducing the overactive growth of the outer skin layer. Although often effective, they have a number of side-effects which should be fully discussed and considered before starting the tablet. Monitoring blood tests are needed while taking retinoid tablets, and pregnancy must be avoided as the drug can severely damage any unborn baby (teratogenic). More specific information on caring for the skin, eyes and ears in LI and other forms of ichthyosis can be found on the Ichthyosis Support Group website at www.ichthyosis.org.uk. Eye treatment Some patients find that using moisturising eye drops can help prevent the eyes from becoming too dry. An ophthalmologist (eye doctor) may be contacted if ectropion (everted eyelids) is preventing the eyelids from closing at night but surgery for this condition is not generally recommended. Ear treatment Patients may experience a build up of dead skin in their ears and regular appointments with the Ear, Nose and Throat department at the local hospital should help to prevent problems such as potential impaired hearing. Physiotherapy Patients with LI may have problems with flexibility in their fingers, known as contractures. This is when the elastic tissue in these appendages is replaced with non-elastic tissue. Some individuals find that physiotherapy and splinting at night can help relieve this problem. Personal care Apart from keeping the skin hydrated and moisturised at all times, patients may get tired and overheated quickly when doing active sports (e.g. running, football etc). They may need to rest more than other individuals and teachers should be aware of this so they do not push children to continue participating. Individuals should be given the flexibility to access fluids throughout the day and not just when participating in sporting activities. Peeling skin, particularly on the face can be difficult for building self-confidence so individuals may need extra support. General practitioners need to understand the psychological impact of the condition and provide adequate support to the family, which may require the involvement of other health professionals. Individuals may experience hair loss, or restricted hair growth due to the thick scaling in LI, and patients should manage their scalp to lessen the scaling where possible. Please see our leaflet for advice about how to look after your scalp. How is the condition inherited? LI is an inherited (i.e genetic) disorder so it runs in families. It is a condition passed on by parents with normal skin who both carry a copy of the faulty gene (autosomal recessive). They will not have LI but they will be a carrier of the condition and may pass on their faulty gene. A child inheriting one faulty gene will be a carrier like their parent, but a child inheriting a faulty gene from each parent will have LI. The risk of any further child being affected is 25% or a 1 in 4 chance. An individual with LI will always pass on a faulty copy of the gene to their children. However, unless the partner is a carrier, or has LI themselves (which is more likely to occur within the same family), their children will only be carriers and will not have LI. Families affected by LI who would like genetic counselling should ask their GP to refer them to a clinical geneticist. A very rare form of autosomal dominant LI has been reported, in which the individual will only need one copy of the faulty gene to be affected. This is not seen often though. What genes are affected? At present, there is no single genetic mutation known to cause LI and a number of the faulty genes associated with this condition are also seen in other congenital forms of ichthyosis (especially CIE). So far, 6 genes have been identified for LI, including TGM1, ALOX12B, ALOXE3, CYP4F22, NIPAL4 (ichthyin) and PNPLA1. The most common gene mutation is TGM1 which is thought to account for approximately 90% of LI. This gene is responsible for making an enzyme important to the structure of the outermost layer of the skin, called transglutaminase 1. Researchers are currently trying to identify further genes which may play a role in LI. Further help There are a number of online forums about LI where individuals can share their experiences and detail their own treatment recommendations. Not everything will work for everyone but they can be a good place both to receive and offer support. Contact us for information, advice, details on useful products, and to be connected with other people to share experiences and helpful advice. Download The Lamellar Ichthyosis Factsheet To find out more about the ISG or become a member please get in touch in one of the following ways: By Phone 0845 602 9202 By Email: [email protected] Facebook: facebook.com/ichthyosissupportgroup Twitter: twitter.com/ISG_Charity
Why People With Ichthyosis Should See a Consultant Dermatologist Expand Many ichthyosis sufferers first contact the ISG after an appointment with a doctor. Sometimes the doctor has put the family in touch with the ISG. But all too often the patient finds the ISG for themselves, searching for the help they need after a disappointing consultation. This article is about getting the best from the NHS. GPs know of ichthyosis, but don’t usually know much about it or the different types. They may even misdiagnose it as eczema which is much more common. They usually prescribe emollients, sometimes not the best ones, or enough. But they are after all general practitioners who need to know about all the common and serious conditions in all organs, not just the skin. The health professional who does know about ichthyosis is the dermatology consultant or “skin specialist”. Dermatologists, like GPs, spend 5-6 years as medical students, followed by 2 “Foundation Years” in a variety of hospital departments: these posts, FY1 and FY2, were previously called Houseman and Senior House Officer. After FY2 , doctors follow different career paths. Future dermatologists will undertake 2 years (ST1-2) of specialist training in hospital medicine, during which they must pass the examination for Membership of the Royal College of Physicians (MRCP). Then these “Registrars” compete for a 4 year training programme in dermatology (years ST3-6) during which they undergo numerous assessments, including a written exam, which they have to pass in order to proceed to the next stage. They all learn about different types of ichthyosis and how to diagnose and treat them. Some may take time out to undertake a research project or a specialist Fellowship. Finally, in their early to mid 30s, they compete for hospital consultant posts. Training doesn’t end there: consultants must attend regular educational sessions to keep up to date in their field, and are appraised annually. GPs can refer patients to a consultant dermatologist, but often choose not to. GPs have to purchase hospital appointments and it is cheaper not to refer, especially chronic conditions like ichthyosis which may require long-term follow-up. The GP may not understand the value of consulting a doctor who regularly sees people with ichthyosis, and who keeps up to date in the field, and can advise authoritatively about your particular case. Many dermatologists work with specialist nurses who give valuable support to sufferers. GPs cannot prescribe retinoid drugs which are sometimes used for ichthyosis. You are entitled to see a specialist, and If necessary you should insist on being referred. Of course some dermatologists know more about ichthyosis than others. An expert in skin cancer or psoriasis might not be the right person for you. Your dermatologist may refer you to a colleague with more expertise, and you can request that. If it is awkward to ask your dermatologist, your GP may agree to refer you elsewhere for a second opinion. If you need the name of a dermatologist who knows more about ichthyosis the ISG may be able to advise. The ISG is actively working for a national network of ichthyosis specialists to make it easier for everyone with ichthyosis to access the help they deserve. practice, but even within this specialty there are many subspecialties, of which “the genodermatoses” (which covers ichthyosis) is only one. Your GP may, unknowingly, have referred you to a dermatologist whose particular area of expertise is occupational dermatitis or skin cancer, or to a very busy general dermatologist who has not had the opportunity to develop a specialist interest. In that case the dermatologist will usually seek advice or refer you on to a colleague with an interest in ichthyosis. Again, you are entitled to request a second opinion. The ISG Medical Advisory Board may be able to suggest a dermatologist in your area to whom you can request a referral. “I never get to see the consultant” In most clinics, the work is shared out between the consultant and junior doctors. Specialist Registrars (SpRs) are consultants in training: in some cases their knowledge may be more up to date than the consultant's! Associate Specialists and Clinical Assistants are usually GPs with a special interest in dermatology who work alongside the consultant for part of the week. They are generally very experienced. Senior House Officers are the most junior. Usually the junior doctor will discuss your case with the consultant. Certainly if you have a question they cannot answer you should ask to be see the consultant. If you particularly want to see the consultant and never do, speak to the receptionist or clinic nurse as soon as you arrive. If this doesn't work, write a letter directly to your consultant. “My dermatologist doesn't listen to me” Sometimes patients leave the consultation feeling dissatisfied. You may feel that the dermatologist doesn't understand what you are suffering, or has not helped you, or that you simply didn't “hit it off”. I hope this is not the case with my patients, but if it is I really want to know. In the past, no-one felt able to challenge consultants who were difficult, unhelpful or downright rude. In the modern NHS such behaviour is not tolerated: consultants are appraised annually and complaints are aired and dealt with. If you are unhappy about the way you have been treated, put down your thoughts on paper and write a letter directly to your consultant. If necessary contact your hospital's Patient Advice and Liaison Service (see below). You should also discuss the problem with your GP. “I hate going to hospital because I am made to feel like a freak” The doctor may ask other people to examine your skin for various reasons. Sometime this is for your benefit, the consultant may be seeking opinions and advice from colleagues. Sometimes it is for educational purposes, the consultant has a duty to teach junior doctors and medical students. But I know that patients find this experience embarrassing and humiliating. Even well-meant sympathetic comments may feel hurtful. Children probably suffer most because they are least able to understand the reasons and express their views. Sadly, many patients feel psychologically scarred by the regular mortifying ordeal of stripping off and exposing their skin to a roomful of strangers. How can I make this better for you? First of all, if your doctor seems insensitive to the way you or your child feels, please tell him or her we really do need this feedback from you. Either explain before the examination takes place that you find it embarrassing, or write a letter afterwards and ask for it to be placed in your file. The doctor should always ask permission, even of a child, to carry out an examination. It is perfectly acceptable to say that you prefer to be examined only by one doctor. Secondly, make sure there is a reason for getting undressed, and if necessary ask what it is. Usually it is to judge the effect of treatment, or to look at particularly troublesome areas. If your condition is stable, and the medication has not been changed, your doctor may still need to remind him or herself of what your skin is like. But if there is no good reason, feel free to decline. Thirdly, I hope you will agree that we want as many doctors to know as much as possible about ichthyosis. So it might help if you can see the experience as your personal contribution to medical education. If you are somebody who feels embarrassed about your skin, take the opportunity to explain this, and how it affects your life. You are the expert. Learning from a real patient is much more effective than learning from a text-book. “At the hospital I always have to wait for hours” Complaints about the hospital service don't usually come to the ISG, but I know everybody has them. Dermatology outpatient clinics are usually very busy, often overbooked, and sometimes frankly disorganised. Appointments may be changed more than once, and your records may even be unavailable when you come to clinic. These organisational problems irritate the doctors just as much as the patients. We do our best to prevent them but most are beyond our control. But please do voice your opinion. Most hospitals have a Patient Advice and Liaison Service (PALS) who will encourage you to submit a complaint. They should make public the complaints received and their response. If you are interested, key “PALS” and your hospital name into an internet search engine. The bottom line is, if you are unhappy about something, say so. Nothing will change if you don't. Consultants really do want to help you, and need to know if you are unhappy with the service. You may find writing a letter easier and more effective: always keep a copy in case you need to take things further. Patient choice and patient satisfaction are higher on the NHS agenda than ever before. Finally, remember that your Medical Advisory Board is here to help. Keep sending us your questions and concerns, and we will do our best to advise you. Written by Dr Celia Moss, DM,FRCP,MRCPCH, Consultant Dermatologist, Birmingham Children’s Hospital, Member of ISG Medical Advisory Board Download The Why People With Ichthyosis Should See a Consultant Dermatologist Factsheet To find out more about the ISG or become a member please get in touch in one of the following ways: By Phone 0800 368 9621 By Email: [email protected] Facebook: facebook.com/ichthyosissupportgroup Twitter: twitter.com/ISG_Charity
Are Bandages Useful for Treating Ichthyosis? Expand When I was asked to write an article on bandaging for the ISG I had anticipated presenting you with some evidence to answer the question I set above. However, as my research has proved futile, in that there is no evidence to be found, the following information is based on my own experience in caring for patients with ichthyosis at Birmingham Children's Hospital. I thought I had better begin by explaining what type of bandages I'm referring to. Tubular bandages are colour coded for size with a red, green, blue, yellow and beige line down the centre (red being the smallest, beige the largest.) and are available in 1 and 5 metre lengths. 10 metres rolls are available only from hospital. They are made from viscose, polyamide and a small amount of Elastane which ensures that they are close fitting to the skin. They can be used on individual limbs or a suit can be made to cover the whole body but this usually only applies to babies under 6 months old as ready made garments are now available. There are a range of ready made, full sleeved vests, tights, leggings, socks, mittens and even balaclavas which does make life a little easier. Despite there being no research available with regard to the use of bandages with ichthyosis it has been well documented that occlusive (covered) techniques using bandages or garments have really benefited children with eczema. There are two techniques used, wet or dry wrapping. If people have heard of bandaging with regard to skin conditions it is usually the term wet wrapping they are familiar with but what does it mean? Wet wrapping is when a two layered (wet & dry) cotton body suit is applied over creams. After applying emollient liberally, a warm, wet tubular bandage or garment is applied. This is followed by a dry layer. The advantage this has for eczema is that the gradual evaporation cools the skin and relieves the intense itch. It also makes it harder for children to scratch. Dry Bandaging is when one or two layers of dry tubular bandage or garment are placed over a liberal amount of emollient. Both techniques help greasy moisturiser stay in place rather than being absorbed and ruining clothing. This is exactly what patients with ichthyosis require. As itch is rather less of a problem with ichthyosis, at Birmingham Children's Hospital we use the dry bandaging technique. Having nursed children with Harlequin ichthyosis and babies born with a collodion membrane we have found that we have had best results from using two layers of dry bandaging. We apply a liberal amount of an emollient such as 50:50 white soft paraffin/liquid paraffin or emulsifying ointment followed by a layer of a tubular bandage suit and then we repeat the process a second time. Depending on the severity of the ichthyosis, emollient is then reapplied at least every 2-3 hours, either on the top layer of tubular bandage, or between the two layers by peeling back just the top layer. Suits are changed every 24 hours following a bath. Parents continue this regime at home until the condition of the skin improves enough to use just a single layer. Children with the most severe type of ichthyosis, such as Harlequin and Non bullous icthyosiform erythroderma, may continue to wear their suits 24 hours a day. Small children are happy to wear their bandages because they feel more comfortable in them. Most are happy to wear them even for school. Some parents have even dyed the bandages to match their child's outfit for special occasions. Some children with ichthyosis prefer to wear their bandage suits just at night to hydrate their skin or to use tubular bandage just on stubborn areas to keep them supple, and to prevent tautness and cracking. There are disadvantages in that some children can overheat because there is a loss of the ability to sweat with some types of ichthyosis. If garments are used other layers of clothing, bedding may need to be modified when taking into account the temperature indoors/outdoors or the level of activity the child is involved in. Another disadvantage is that if a child is prone to skin infection bandages may be detrimental as combined with thick, greasy emollient they provide a warm moist environment which bacteria love so bandages should never be used on skin that is infected. Advantages Retain moisture Skin is comfortable and less taut Avoids ruining clothing Can be used on whole body or part of a limb Disadvantages Overheating Infection Practical tips! Single tubular bandages should only be used once then discarded. Garments are washable but remember to soak them in a detergent before machine washing to try to extend the life of your washing machine which, no doubt, some of you will already have had to replace. WARNING Skin products containing white soft paraffin and emulsifying ointment are easily ignited with a naked flame or a cigarette. In conclusion, I believe bandages are beneficial for treating adults and children with ichthyosis and would go as far as to say that they are essential for treatment of severe forms of ichthyosis. I would recommend that bandaging should be discussed with a GP, Dermatologist or Specialist Nurse and taught by a health care professional, who can also provide ongoing support in the community or in a dermatology out-patient department. Bandages and bandage suits can be prescribed by your GP. As a rough guide, most children with severe ichthyosis will require 6 suits per month. The following companies make suitable products and include adult sizes: Elasticated Viscose Stockinette Lightweight plain-knitted elasticated tubular bandage. Acti-Fast®, Sizes; 3.5cm red line (small limb), length 1m; 5cm green line (medium limb), length 1m, 3m & 5m; 7.5cm blue line (large limb), length 1m, 3m & 5m; 10.75cm yellow line (child trunk), length 1m, 3m & 5m; 17.5cm beige line (adult trunk), length 1m (Manufacturer Activa) Comfifast®, Sizes 3.5cm red line (small limb), length 1m; 5cm green line (medium limb), length 1m, 3m & 5m; 7.5cm blue line (large limb), length 1m, 3m & 5m; 10.75cm yellow line (child trunk), length 1m, 3m & 5m; 17.5cm beige line (adult trunk), length 1m (Manufacturer Synergy) Comfifast® Easy Wrap Suits, Sizes 6-24 months, 2-5 years, 5-8 years, 8-11 years, 11-14 years; tights (pair) 6-24 months; leggings (pair) 2-5 years, 5-8 years, 8-11 years, 11-14 years; socks (pair) up to 8 years, 8-14; mittens (pair) up to 2-4 months, 2-8 years, 8-14 years; clava 6 months-5 years, 5-14 years (Manufacturer Synergy) Coverflex® , Sizes 3.5cm red line (small limb), length 1m; 5cm green line (medium limb), length 1m, 3m & 5m; 7.5cm blue line (large limb), length 1m, 3m & 5m; 10.75cm yellow line (child trunk), length 1m, 3m & 5m; 17.5cm beige line (adult trunk), length 1m (Manufacturer Hartmann) Tubifast® , Sizes 3.5cm red line (small limb), length 1m; 5cm green line (medium limb), length 1m, 3m & 5m; 7.5cm blue line (large limb), length 1m, 3m & 5m; 10.75cm yellow line (child trunk), length 1m, 3m & 5m; 17.5cm beige line (adult trunk), length 1m; vest, 6-24 months, 2-5 years, 5-8 years, 8-11 years & 11-14 years; tights (pair) 6-24 months; leggings (pair) 2-5 years, 5-8 years, 8-11 years & 11-14 years; socks (pair); gloves (small, medium or large adult, medium or large child) (Manufacturer Mölnlycke/Medlock) Other companies also supply similar bandages and garments. See the Pharmaceutical and Medical Companies section on the ISG website for more information. Written by Sheila Richards, Dermatology Nurse Birmingham Children’s Hospital, ISG Medical Advisory Board Member. Download The Are Bandages Useful for Treating Ichthyosis Factsheet To find out more about the ISG or become a member please get in touch in one of the following ways: By Phone 0800 368 9621 By Email: [email protected] Facebook: facebook.com/ichthyosissupportgroup Twitter: twitter.com/ISG_Charity
Harlequin Ichthyosis Factsheet Expand What is Harlequin ichthyosis? Harlequin ichthyosis (HI) is an extremely rare inherited skin condition, present from birth and lasting for the whole of a patient’s life. The condition is considered to be the most serious form of all the inherited ichthyoses at present and is characterised by very dry, red skin. Infants with HI are usually born prematurely and present with thick, armour-like scales covering their skin, with deep, red cracks in between. Over time, this thick, armour-like shell will start to peel off but the skin tends to remain very red and scaly throughout life. It is possible that some babies may not survive if their symptoms are too severe. Most fatalities take place in the first few days of a baby’s life, but survival rates for HI are continually improving as better treatments become available. What are the signs? The skin normally acts as a type of barrier, maintaining a constant body temperature, while keeping moisture in and infection out. In HI, however, this function is impaired due to the cracks in the scales and the skin becomes “leaky.” This leads to a loss of heat, important proteins and moisture and makes the individual highly prone to infection. The new-born’s skin will also be very tight and this may distort facial features and cause the baby’s eyes and mouth to be pulled back and turn inside out (everted). This is known as ectropion in the eyes and eclabium in the lips, making it difficult for the infant to feed properly. Their nose often appears compressed or misshapen and their hands and feet tend to be small and contracted. The rigid scales associated with HI are likely to cause the ears to fuse to the side of the head and restrict an infant’s normal breathing so they may need to be put on respiratory support. Newborn’s must be kept in a humidified incubator and treated in the neonatal intensive care unit until they are healthy enough to go home, can feed properly and are free from infection. Another key feature of HI is a failure to put on adequate weight and slowed growth are also signs of the condition. How is the condition diagnosed? Symptoms vary from person to person but there are a number of common signs that doctors will check to differentiate HI from other skin conditions. At or soon after birth, babies are usually red all over (erythroderma) and may require incubation to maintain their temperature and keep them hydrated. Babies are often premature and are covered in a thick, armour-like shell at birth. A small piece of skin may be taken to do a skin biopsy to check for the ABCA12 protein, which can be abnormal or sometimes absent in someone with HI. A skin biopsy is usually done by a dermatologist rather than a GP or paediatrician. A blood test can also be taken (and sent to a national reference laboratory) to check for a fault in the ABCA12 gene. You should speak to a geneticist about this. It is anticipated that this service will become more widely available over the next few years. Prenatal diagnosis of HI is now possible. Abnormalities in the ABCA12 gene can be detected molecularly or a 3D-ultrasonography (a scan of the foetus) can be used to look for features common in HI. These procedures are not routinely provided, however and patients should let their doctor know in advance if they have a history of HI in the family. Why is Harlequin ichthyosis sometimes misdiagnosed? Occasionally patients are not diagnosed for months or even years as red skin can be a symptom of many other skin conditions, such as severe eczema or an immune deficiency disease. It is important that any persistently red baby is considered to have HI to avoid being misdiagnosed or incorrectly treated. Managing Harlequin Ichthyosis As yet, there is no cure for NS but continual lifelong care with moisturisers and anti-infection treatments should help keep the skin as healthy as possible. Success of the treatments will depend on individuals, and what works for one person may not work for another. Patients will need to consider different options to find the best for them. Nutritional advice may also be helpful. Moisturising creams and skin treatment It is very important that the skin is kept moisturised at all times and that greasy, moisturising creams and ointments are applied frequently throughout the day. Moisturising agents should be perfume-free and without additives to avoid any allergic reactions. Bath oils are important so that bathing does not cause drying or irritation of the skin. Bathing tends to be more beneficial than showering. The use of systemic retinoid medicines has helped increase survival rates in newborns with HI and is often used alongside an intensive care regime while the infant is in hospital. Careful monitoring of liver function during retinoid therapy is vital. Emollients and keratolytic creams which contain urea, and/or salicyclic acid (see product’s ingredients label for these) should be avoided in infants as these do not help the skin and can even make the condition worse. Antibiotics are also important to treat secondary skin infections and gentle antiseptics can provide the skin with additional protection. It is important to always seek advice from a specialist dermatologist before using any new cream in HI to check that it is safe. More specific information on caring for the skin, eyes and ears in HI and other forms of ichthyosis can be found on the Ichthyosis Support Group website at www.ichthyosis.org.uk. Diet Due to their slowed growth, some babies with HI may need to be fed a special high protein diet to help them gain weight. This is usually given “artificially” via a tube as the baby cannot feed well enough and should be managed by a children’s dietician. The feeding tube is either passed through the baby’s nose into their stomach (nasogastric feeding) or through their abdominal wall, known as gastrostomy. Some babies with HI may need to be given special feeds into a vein. Patients with HI will also be prone to dehydration and should therefore drink plenty of water. To minimise the risk of dehydration, make sure teachers and colleagues are aware of the need for additional hydration throughout the day while at school or in the workplace. Eye treatment It is extremely important that the eyes are kept sufficiently lubricated in babies with HI if their eyelids are everted (ectropion) and do not close properly. Some patients find that using moisturising eye drops can help prevent the eyes from becoming too dry. A Corneal ophthalmologist (eye doctor) should be contacted and minor eye surgery may be considered to try and ameliorate ectropion. Physiotherapy Patients with HI often have slightly less mobility than other individuals, especially when new-born due to the armour-like membrane characteristically seen at birth. This will likely improve as the thick-skin peels but physiotherapy may be useful to help improve general mobility throughout a patient’s life. Herbal remedies Some patients find that over-the-counter herbal remedies and dietary supplements can help but check with your doctor beforehand. Protein based supplements are most likely the best. Personal care Apart from keeping the skin hydrated and moisturised at all times, patients may get tired and overheated quickly when doing active sports (e.g. running, football etc). They may need to rest more than other individuals and teachers should be aware of this so they do not push children to continue participating. Red and peeling skin, particularly on the face can be difficult for building self-confidence so individuals may need extra support. General practitioners need to understand the psychological impact of the condition and provide adequate support to the family, which may require the involvement of other health professionals. Support Although abnormal mental development has not been reported in children with HI, additional teaching support may be needed. Some children have difficulties with speech due to ear problems or eclabium (everted lips) and a child’s progress in school may be affected due to frequent hospital visits, eye appointments or hearing checks during school hours. For employed adults with HI, it is important to ensure their place of work knows about the condition and any additional support required. If patients are unable to work because of the condition, they may be entitled to financial support. Visit the DirectGov website Gov.uk www.gov.uk How is the condition inherited? HI is an inherited (i.e genetic) disorder so it runs in families. However, as it is an autosomal recessive condition, HI often occurs out of the blue. Each parent will have one copy of the faulty gene. They will not have HI but they will be a carrier of the condition and may pass on their faulty gene. A child inheriting one faulty gene will be a carrier like their parent, but a child inheriting a faulty gene from each parent will have HI. An individual with HI will always pass on a faulty copy of the gene to their children. However, unless the partner is a carrier, or has HI themselves (which is more likely to occur within the same family), their children will only be carriers and will not have HI. It is advisable for families affected by HI to seek genetic counselling before expanding their family. What genes are affected? The faulty gene in HI has recently been confirmed as the ABCA12 gene. This gene codes for an important protein in the skin, responsible for transporting lipids to the skin surface and supporting the skin’s protective function. Though still in the early stages, researchers are now investigating ways of replacing this missing protein, offering real hope for the future. Further help There are a number of online forums about HI where individuals can share their experiences and detail their own treatment recommendations. Not everything will work for everyone but they can be a good place both to receive and offer support. Contact the Ichthyosis Support Group for information, advice, details on useful products, and to be connected with other people to share experiences and helpful advice. Download The Harlequin Ichthyosis Factsheet To find out more about the ISG or become a member please get in touch in one of the following ways: By Phone 0800 368 9621 By Email: [email protected] Facebook: facebook.com/ichthyosissupportgroup Twitter: twitter.com/ISG_Charity
Genetic Testing Expand Genetic testing Professor Celia Moss, Consultant Dermatologist, Birmingham Children’s Hospital (updated by Professor Edel O’Toole- 30.04.2014) Patients with ichthyosis, or their parents, naturally want as much information about their condition as possible. A common request is for “genetic testing”. But many people have a rather vague idea of what genetic testing means - not only patients, but also many doctors. This article will try to explain. What is a gene? Genes are the physical instructions, copied from one generation to the next, that programme us to be what we are. They consist of the chemical DNA. Identical sets are packed into the nucleus of every single cell in the body, arranged on chromosomes, like beads on a string. There is at least one gene, and sometimes hundreds, for every item of body structure and function. There are many genes responsible for the skin: these genes are present in all other organs as well as skin, but they are mostly “silent” in other organs, and only “expressed” in the skin. The “human gene map” has been published, so the names and locations of all human genes are now known. But scientists are still a long way from understanding what they all do, and research is going on all the time. How do genes cause disease? If there is a mistake (mutation) in the DNA of a gene, that gene may not work properly and can cause a genetic disease. For example, a mistake in the keratin 10 gene means that the structure of the epidermis is defective, causing epidermolytic ichthyosis, previously known as bullous ichthyosiform erythroderma (BIE). We have two copies of every gene, one from each parent. Some genetic diseases result from a mutation in only one copy of the gene (“dominant conditions” like BIE). Others only occur if there is a mutation in both copies (“recessive conditions” like congenital ichthyosiform erythroderma CIE). The parents of children with recessive conditions are usually “unaffected carriers” (mutation in just one copy). What genes cause ichthyosis? We know about several genes that can cause ichthyosis and the list gets steadily longer as more are discovered. For each gene, many different mutations have been recognised, perhaps explaining why the same condition can appear slightly different in different families. What is genetic testing? The term “genetic testing” covers all methods of investigating genes. It requires living cells, and the most convenient source of these is blood. Chromosomes are big enough to see under a microscope, using a technique called cytogenetics. But only very large mutations can be detected in this way. Most mutations can only be detected by chemical analysis of DNA which is usually extracted from blood cells. DNA can also be obtained from saliva but it is a bit less reliable - imagine if the smear picks up some germs, or a bit of meat from your dinner, it won’t be your DNA that gets tested! Usually saliva samples are obtained after rinsing out the mouth and before lunch, rather than after. Why does it take so long to get the results? Mutation testing is difficult and laborious. Many genes are large and complex, so it can be like looking for a needle in a haystack. Even if the lab finds an abnormality, it might not actually be the cause of the disease, because of “normal variation” (so-called polymorphisms): for example my normal keratin10 gene might not be exactly the same as someone else’s, even though it does the same job. So there can be “false negative” and “false positive” results. For some genes there are known “hot-spots” or short-cuts for finding common mutations. But even then the results must be thoroughly checked. When you finally get the result you can be confident that it is correct, and if you are still waiting for a result after many months or years it is usually because the lab hasn’t yet found a mutation. Is genetic testing used to make a diagnosis? No, usually it’s the other way round – we need to know the diagnosis to decide what gene or genes to test! However, now technology is available called exome sequencing and it is possible to test all known ichthyosis and skin disease-related genes quickly from one individual. However, there is a huge amount of information and a lot of expertise is required to perform analysis. At the moment, it is mainly performed in research labs and takes about 3 to 6 months. So how do doctors diagnose the type of ichthyosis? Doctors have a standard way of making a diagnosis. First we “take a history” asking questions about the way the ichthyosis developed (eg collodion baby), other cases in the family, and any other medical problems like deafness, eye problems or delayed development. Then we examine the patient and look at the pattern, severity and type of scales, whether there are blisters, and whether there are other physical abnormalities. Thirdly, depending on what we think it might be, we may request some laboratory tests, like a blood count, steroid sulphatase measurement, hair analysis, or occasionally skin biopsy. We might also request an opinion from another specialist (eg a neurologist or ophthalmologist) if there is an associated problem that might be relevant. After all that we can usually make a diagnosis. When is genetic testing carried out? A diagnosis of ichthyosis can be made without genetic testing. In recent years genetic testing has been mainly carried out for the purpose of genetic counselling, particularly in recessive conditions. If the causative mutation can be identified in a person with a recessive type of ichthyosis, then relatives can be tested to see if they are carriers, and unborn babies can also be tested (“prenatal diagnosis”). However, recent European and UK rare disease legislation will probably result in an attempt to give any patient, certainly with a severe ichthyosis, a genetic diagnosis. When is genetic testing not carried out? If we have absolutely no idea of the diagnosis, genetic testing is unlikely to help, because we don’t know which test to ask for. For example, genetic testing is not useful in a collodion baby initially because lots of genetic conditions can cause that appearance. With time the true diagnosis usually becomes apparent simply from observing the patient, and can be confirmed by genetic testing if necessary. For some conditions we don’t know the gene yet (eg some types of erythrokeratoderma), or there may be several candidate genes (like CIE), and it would be expensive and unrewarding to do tests. But even if there is no test at the current time, more genes are being found every year, and the situation can be revisited when the child is older. Sometimes parents ask for their unaffected children to be tested to see if they are carriers, but carrier testing is not carried out on children when the result has no relevance to them and they are too young to understand the implications. Who can request it? Genetic testing for ichthyosis is usually requested by a geneticist or dermatologist. In theory GP’s can request it, but usually they would not have the expertise to know what test to request, or how to interpret the result. Patients can request some genetic tests (“direct to consumer genetic testing”) but we would advise against this. Firstly, as with GPs, lay people do not have the breadth of knowledge required to request and interpret genetic tests. Secondly it costs hundreds and sometimes over a thousand pounds, which the NHS will pay for if it is requested by a health professional. Who does genetic testing? When a new gene is discovered, usually only the research lab that discovered it will test for it. While it is still new and interesting, labs will do the test for free (provided the request comes from a reliable dermatologist who is likely to have made the right diagnosis and requested the right test). Later they start to charge a commercial rate for the test, and subsequently big commercial labs will add that gene to their range on offer. Web sites offering genetic tests include www.ukgtn.org and www.genetests.org. Who gets the result? The result is sent to the person requesting the test. I usually send it on to the GP and the patient, with an explanatory letter, but very few doctors do that. I know that patients are unlikely to understand the report, but it seems to me to be a very important piece of information which rightly belongs to the patient. You can request a copy of the report from your doctor if you wish. DNA tests requested for medical purposes are confidential and never shown to any one other than the family and their medical professionals without the patient’s consent. What are the benefits of genetic testing? Having a genetic diagnosis is more precise than a clinical diagnosis, as you will know the exact mutation causing ichthyosis in your family. As explained above, a genetic diagnosis is necessary for prenatal diagnosis. Finally, it is likely that in the future (10-20 years) treatment may be based on the gene affected, so to be able to participate in trials of some new treatments, a genetic diagnosis may be needed. Any more questions? If you have further questions after reading this, you can email them to the ISG and we will try to answer them. Download The Genetic Testing Factsheet To find out more about the ISG or become a member please get in touch in one of the following ways: By Phone 0800 368 9621 By Email: [email protected] Facebook: facebook.com/ichthyosissupportgroup Twitter: twitter.com/ISG_Charity
Netherton Syndrome Factsheet Expand What is Netherton Syndrome? Netherton Syndrome (NS) is a rare inherited skin condition, often present at birth or in the first few weeks of life where the skin is very red with fine dry scales. The condition tends to last for a lifetime but the severity can vary from person to person. Under normal circumstances, the skin acts as a type of barrier, maintaining a constant body temperature, while keeping moisture in and infection out. In NS, however, this function is impaired and the skin becomes “leaky.” This leads to a loss of heat, important proteins and moisture and makes the individual prone to infection. It is therefore common for babies with this condition to have to stay in a hospital incubator for a while to prevent dehydration or infection and allow their skin to be kept moist at all times. In very rare cases, new-born’s with particularly severe symptoms may not survive. The first year of life is the critical period and some children are in and out of hospital with repeated infections, dehydration and poor weight gain. Watch the Netherton Syndrome Presentation and Q&A webinar held with patients and families, presented by Professor Alain Hovnanian and Dr Evgeniya Petrova at https://www.ichthyosis.org.uk/netherton-syndrome-presentation-and-qa What are the signs? At birth, babies with NS look as if they have been scalded with their skin at its reddest for the first year of life. One of the key features of NS is a failure to thrive, especially in the first two years of life. Growth and weight gain are usually significantly lower than that of children of a similar age and individuals with NS tend to be short in stature. As children get older, their skin tends to improve, although some people stay red all over, while others develop circular patches of red and scaly skin. This may appear to have a “double edge of skin” known as Linearis Circumflexa. In addition to having dry and red skin, individuals with NS usually have other symptoms associated with the condition, including spikey-looking, dull, brittle hair; eye problems, such as excessive watering; and many patients develop allergies, especially to nuts and fish. They may also develop hay fever, asthma and atopic eczema and experience hearing loss due to the build-up of scales inside the ears. How is the condition diagnosed? Symptoms vary from person to person but there are a number of common signs that doctors will check to differentiate NS from other skin conditions. The skin will be red, especially for the first year of life and will usually be rough or “scaly” and quite itchy at times. Under a microscope, cut hair will show defects in the hair shaft and will look “spiky” or “gelled”. This is referred to as “bamboo hair”. This method may not always be reliable in early life as the hair changes may not have happened yet. Sometimes, a small piece of skin may be taken to do a skin biopsy to check for a protein called LEKTI; this will be missing in someone with NS. A skin biopsy is usually done by a dermatologist rather than a GP or paediatrician. A blood test can also be taken (and sent to a national reference laboratory) to check for a fault in the SPINK-5 gene. Why is Netherton Syndrome sometimes misdiagnosed? Often babies or children are not diagnosed for months or even years as red skin at birth can be a symptom of other conditions, such as other types of ichthyosis, severe eczema or other forms of immune deficiency. It is therefore important to ensure a baby or child has other tests at this stage to rule out conditions other than NS. Managing Netherton Syndrome As yet, there is no cure for NS but continual care with moisturisers and anti-infection treatments along with nutritional advice should help keep the skin as healthy as possible. How successful each treatment is tends to vary from person to person and what works for one person may not work for another. Patients will need to consider different options to find the best treatment for them. Due to their slowed growth, some babies with NS may need to be fed a special high protein diet to help them gain weight. This is usually given “artificially” via a tube as the baby cannot feed well enough and should be managed by a children’s dietician. The feeding tube is either passed through the baby’s nose into their stomach (nasogastric feeding) or through their abdominal wall, known as gastrostomy. Some babies with NS may need to be given special feeds into a vein. Multiple food allergies are common in NS so advice from a dietitian on how to avoid them and what alternate foods to use, is essential to ensure adequate nutrition. In the early years extra dietary supplements are recommended, especially protein. Patients with NS will also be prone to dehydration and should therefore drink plenty of water. To minimise the risk of dehydration, make sure teachers and colleagues are aware of the need for additional hydration throughout the day while at school or in the workplace. Moisturising creams and skin treatment It is very important that the skin is kept moisturised at all times and that greasy, moisturising creams and ointments are applied frequently throughout the day. Moisturising creams or emollients used should be perfume-free and without additives to avoid any allergic reactions. Emollients should be used to keep the skin as moist and hydrated as possible. Soaking in the bath for a period of time is more beneficial than a shower. Bath oils and soap substitutes can also help and these are safe for long-term use. Steroid creams or retinoid medicines should be avoided as these do not tend to help the skin and can even make the condition worse. Both children and adults with NS are more susceptible to infection than those without and the use of antibiotics can be important to help protect the skin against infection. Antiseptics and antimicrobials can also provide the skin with additional cover. It is important to seek advice from a pharmacist, dermatology nurse or dermatologist before trying any new cream. It is highly recommended that individuals patch test creams for sensitivity before general use. Ear treatment Patients may experience a build up of dead skin in their ears and regular appointments with the Ear, Nose and Throat department at the local hospital for micro suction should help to prevent problems such as potential impaired hearing. More specific information on caring for the skin, eyes and ears in NS and other forms of ichthyosis can be found on our website. Personal care Apart from keeping the skin hydrated and moist at all times, patients may get tired and overheated quite quickly when doing active sports (e.g running, football etc). They may need to rest more than other individuals and must balance the child’s requirements. Good communication between the parent, health and education services is essential. Red and peeling skin, particularly on the face can be difficult for building self-confidence so individuals with NS may need extra support. As general practitioners may not understand the psychological impact of the condition, other health professionals can provide more help. Some individuals choose to wear wigs due to hair abnormalities. Support Some children with NS may require additional teaching support if learning difficulties have been identified. Some children have difficulties with speech due to impaired hearing caused by the build up of dead skin in the ear and a child’s progress in school may be affected due to frequent hospital visits or hearing checks during school hours. Physiotherapy Patients with NS may have slightly less mobility than other individuals and difficulty extending the arms and legs completely. Physiotherapy may help improve general mobility. For employed adults with NS, it is important to ensure their place of work knows about the condition and any additional support required. If patients are unable to work because of the condition, they may be entitled to financial support. Visit the DirectGov website (http://www.direct.gov.uk/en/DisabledPeople/FinancialSupport/index.htm) for further information about claiming Disability Living Allowance. Families with babies and children should also be eligible to apply for DLA and Family Fund can provide additional help. How is the condition inherited? The condition runs in families as NS is an inherited (i.e genetic) disorder. However, NS is an autosomal recessive form of genetic disorder so the condition usually occurs out of the blue. Each parent provides half their child’s genes so if both parents have one copy of the faulty gene they will be carriers of the condition but will not have NS. Their child must have two copies of the faulty gene, one from each parent for NS to occur. Individuals with NS will pass one of faulty gene onto their children so their children will be carriers but are very unlikely to be affected. Genetic counselling is available for parents with children affected by NS, and for those patients thinking of starting a family. A referral to a clinical geneticist should be requested from your general practitioner or consultant dermatologist. What genes are affected? Scientists are not yet sure on the exact cause of NS but patients with NS have been found to have a faulty gene (the SPINK5 gene), which fails to produce a certain protein called LEKTI. Though still in the early stages, researchers are now trying to find ways of replacing this missing protein, offering real hope for the future. There are active medical trials currently in place Further help There are a number of online forums about NS where individuals can share their experiences and detail their own treatment recommendations. Not everything will work for everyone but they can be a good place both to receive and offer support. Contact the Ichthyosis Support Group for information, advice, details on useful products, and to be connected with other people to share experiences and helpful advice. Download The Netherton Syndrome Factsheet To find out more about the ISG or become a member please get in touch in one of the following ways: By Phone 0800 368 9621 By Email: [email protected] Facebook: facebook.com/ichthyosissupportgroup Twitter: twitter.com/ISG_Charity
Ichthyosis Vulgaris and Acquired Ichthyosis Factsheet Expand What is ichthyosis vulgaris? ‘Ichthyosis’ is a group of skin conditions characterised by dry, scaly skin and ichthyosis vulgaris (IV) is the most common form of inherited ichthyosis. The severity of IV varies widely from very mild cases of dry skin to severe areas of thickened skin and scaling over the body, arms, legs and face. The condition runs in families, often along with eczema and/or asthma and/or hay fever. IV usually presents in early childhood but an individual’s skin will usually appear normal at birth. The lifelong condition may improve with age and often subside in the warmer summer months, while becoming more severe when the weather is cold and dry in winter. What is acquired ichthyosis? Acquired ichthyosis is a form of ichthyosis which generally appears in adults. It commonly results from natural dryness of the skin in our later years of life but it may rarely be associated with an underlying disease. There are a number of conditions associated with acquired ichthyosis including nutritional deficiencies, metabolic factors and side effects from some medications. A short list of examples is given below but this is by no means all-inclusive. The severity of acquired ichthyosis largely depends on the underlying cause but if the cause is removed or the condition is treated, the ichthyosis should improve. Conditions associated with acquired ichthyosis Advancing age Environmental factors: excessive washing, excessive heat, cold windy weather, chlorine from swimming pool, air conditioning Metabolic factors eg thyroid disease, excessive weight loss Vitamin A deficiency Treatment with nicotinic acid eg to lower cholesterol Extremely rarely, other serious conditions What are the signs? The signs of IV and acquired ichthyosis are quite similar. The skin is seen to be dry and flaky with the build-up of fine, pale scales in certain areas, usually the outer parts of arms, lower legs and across the abdomen. In IV the palms and soles have more noticeable creases and wrinkles of the skin. Eczema may also develop in acquired ichthyosis and IV, making the skin itchy and red. How are the conditions diagnosed? Symptoms vary from person to person but there are a number of common signs that doctors will check to identify IV or acquired ichthyosis. Unlike most ichthyoses, IV and acquired ichthyosis are not usually present at birth. IV typically develops in early childhood, while acquired ichthyosis develops later in childhood or adulthood. Usually the diagnosis can be made by an experienced doctor simply looking at the skin. If the diagnosis is not clear, sometimes a blood test or skin sample (biopsy) are needed. In IV, a skin biopsy can be done to check for a protein called profilaggrin which is reduced or absent in these patients. A skin biopsy is usually done by a dermatologist rather than a GP or paediatrician. Blood tests may be needed to check for conditions associated with acquired ichthyosis. Why are ichthyosis vulgaris and acquired ichthyosis sometimes misdiagnosed? Occasionally patients are not diagnosed for months or even years as symptoms may come and go and dry skin can be a symptom of other skin conditions, such as eczema or rare forms of immune deficiency. If the ichthyosis is mild and not troublesome for the patient, no diagnosis is requested. But if the ichthyosis is troublesome it is important to ensure an individual has additional tests if IV is suspected in order to rule out other conditions or else identify the underlying disease. Managing the conditions As yet, there is no cure for IV but the prognosis for the condition is generally very good. Symptoms tend to come and go but continual care with moisturisers should help keep the skin as healthy as possible. It may also be necessary to avoid environmental conditions that can worsen ichthyosis eg excessive washing, dry, cold and windy weather. Success of the treatments will depend on the individual and the severity of their condition. What works for one person may not work for another and patients will need to consider different options to find the best treatment for them. Treatment surrounding diseases which result in acquired ichthyosis should be tailored to that specific condition and are not covered in this leaflet. Individuals should consult their doctor for further guidance on treating the underlying condition, though they may find the following information useful in managing their ichthyosis symptoms. Moisturising creams and skin treatment It is very important that the skin is kept moisturised at all times and that moisturising creams or ointments are applied frequently. Moisturising agents should be perfume-free and without additives to avoid any allergic reactions. The use of bath oils (not bubble bath or soap) is helpful so that bathing does not cause drying or irritation of the skin and soaking in the bath tends to be more beneficial than taking a shower. Emollients and keratolytic creams which contain urea, and/or lactic acid (see product’s ingredients label for these) can be useful to remove scales. However these should be avoided if the skin is particularly itchy or red because they may irritate the skin. In very severe cases antibiotics can be given to treat secondary infections. More specific information on caring for the skin in IV and other forms of ichthyosis can be found on the Ichthyosis Support Group website at www.ichthyosis.org.uk. Personal care Scaling and peeling skin, particularly in the most visible areas such as the scalp or face, can be difficult for building self-confidence so individuals may need extra support. General practitioners need to understand the psychological impact of the condition and provide adequate support to the family. This may require the involvement of other healthcare professionals. How is ichthyosis vulgaris inherited? IV is a genetic disorder so the condition runs in families. IV is an autosomal semi-dominant form of genetic disorder. This means that an affected child needs only one copy of the faulty filaggrin gene to have the condition, but individuals with two faulty copies have more severe IV than individuals with one faulty copy. Since each parent provides half their child’s genes, there is a 50:50 chance that a parent with IV can pass the condition onto their children if their partner is not affected. Filaggrin is the genetic code for a protein called profilaggrin. Profilaggrin is important in building the skin barrier, to protect the body from irritants and allergens in the outside world. It also holds moisture in the skin. In IV patients, faulty filaggrin produces less profilaggrin and that is why the skin is dry. IV patients may also develop allergic diseases (eczema, asthma, hay fever and some food allergies) because the skin barrier is faulty. Acquired Ichthyosis cannot be passed down in families but the underlying condition behind the disorder may in some cases. Patients should consult their doctor for further information. Download the Ichthyosis Vulgaris and Aquired Ichthyosis Factsheet Further help There are a number of online forums about Ichthyosis where individuals can share their experiences and detail their own treatment recommendations. Not everything will work for everyone but these forums are a good place both to receive and offer support. Contact the Ichthyosis Support Group for information, advice, details on useful products, and to be connected with other people to share experiences and helpful advice. To find out more about the ISG or become a member please get in touch in one of the following ways: By Phone 0800 368 9621 By Email: [email protected] Facebook: facebook.com/ichthyosissupportgroup Twitter: twitter.com/ISG_Charity
Rare Ichthyoses Factsheet Expand What is ichthyosis? ‘Ichthyosis’ is a group of genetic skin conditions characterised by dry, scaly skin. There are a number of conditions that as well as having ichthyosis present with other features and some of these very rare forms of ichthyosis are summarised below. Sjögren-Larsson syndrome This condition is characterised by three features: a) ichthyosis; b) neurological problems which are often severe and c) mild to moderate mental retardation. The neurological problems can cause weakness and partial paralysis in the legs, but often these children learn to walk unaided or with the help of crutches. It is inherited as autosomal recessive affecting one in four children, assuming both parents are carriers. It is caused by an abnormality in a chemical (fatty alcohols) in the skin and nerves. The gene has been found allowing pre-natal diagnosis early in pregnancy. Treatment includes regular skin care, moisturising creams, bath oil, physiotherapy, as well as support from a number of specialists – dermatologist, neurologist and orthopaedic surgeon. Acitretin or neotigason is a retinoid drug taken by mouth which is related to vitamin A and can be helpful for this condition. It needs careful monitoring under hospital supervision. Orthopaedic surgery, such as the release of tightened tendons, is beneficial. Conradi-Hünermann syndrome In this condition ichthyosis is associated with bone abnormalities and cataracts. X rays of the skeleton in babies shows tiny spots at the growing end of the long bones called stippling, which is characteristic for this condition. The ichthyosis or scaling of the skin is often in lines or swirled patterns. It is inherited as a disorder of the X-chromosome and seen in girls. Treatment is along the same lines as the other more severe ichthyoses. Keratitis-ichthyosis-deafness (or KID) syndrome This combination is rare and most cases are sporadic with no family history. The skin changes develop in infancy with spiny thickening of the skin, which is prone to becoming infected. They are handicapped by deafness and visual impairment. Treatment is symptomatic and along the same lines as the other more severe ichthyoses. Refsums disease This ichthyosis is usually not severe and develops later in childhood with fine white scales like ichthyosis vulgaris. The main problem is neurological with progressive weakness and a serious eye condition called retinitis pigmentosa. It is due to an accumulation of a fat chemical called phytanic acid in the skin and nerves. Dietary restriction of phytanic acid, found particularly in green vegetables, is helpful if started at an early age. Trichothiodystrophies The main features are ichthyosis and short brittle hair. It is due to a deficiency of sulphur, which can be demonstrated in the hair. There are a number of different variations depending on other associated symptoms. These are given the names: IBIDS (ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature) and PIBIDS which is the same but with photo- (or sun-) sensitivity. Treatment is symptomatic and along the same lines as the other more severe ichthyoses. CHILD syndrome The acronym child describes a very rare disorder comprising congenital hemidysplasia (under developed) with ichthyosiform erythroderma and unilateral limb defects, mainly skeletal hypoplasia [1]. The skin lesion more often resembles a unilateral inflammatory epidermal naevus (warty birthmark), rather than an ichthyosis. Happle suggested that it is a unique inherited naevus determined by an X-linked dominant mutation, as the female : male ratio is 28 : 1 and skin involvement may occur in Blaschko’s lines. Over 30 cases have been reported since the 1960s. The skin lesions are usually noted in the first days of life as an inflamed, hyperkeratotic (warty), crusted or thickened plaque covering a large area or most of one side of the body, with sharp demarcation at the midline. Linear bands of normal skin on the affected side and of ichthyotic scaly red skin on the ‘normal’ side may occur, and suggest a mosaic somatic mutation. The flexures on the affected side are preferentially involved, and the head is usually spared. The skin lesions may progress in the first year of life and then improve with time. Unilateral alopecia and nail dystrophy may occur. Various other defects, some of which may prove fatal, include congenital heart disease, spina bifida and renal defects. The most common skeletal defect is ipsilateral limb hypoplasia, and calcific stippling of epiphyses (bone growth plates) in infancy has been reported. A sibling of an affected patient had bilateral limited skin disease in the absence of extracutaneous features. Bilateral symmetrical lesions were reported in one patient with a novel NSDHL mutation. The lesions may be mistaken for an epidermal naevus, lichen striatus or linear psoriasis. Cataracts do not occur. Genetics. The theory of X-linked dominant inheritance is convincing and explains the apparent lethality in male embryos. The predominantly unilateral and mosaic distribution is attributed to the Lyon effect of random X chromosome inactivation. An early teratogenic insult and syndromes associated with limb reduction defects must be included in the differential diagnosis. Treatment. Emollients and keratolytics are helpful. Urea-containing emollient, retinoid therapy and methotrexate have improved the skin lesions in individual patients. Moisturising creams and skin treatment It is very important that the skin is kept moisturised at all times and that moisturising creams or ointments are applied frequently. Moisturising agents should be perfume-free and without additives to avoid any allergic reactions. The use of bath oils (not bubble bath or soap) is helpful so that bathing does not cause drying or irritation of the skin and soaking in the bath tends to be more beneficial than taking a shower. Emollients and keratolytic creams which contain urea, and/or lactic acid (see product’s ingredients label for these) can be useful to remove scales. However these should be avoided if the skin is particularly itchy or red because they may irritate the skin. In very severe cases antibiotics can be given to treat secondary infections. More specific information on caring for the skin can be found on the Ichthyosis Support Group website at www.ichthyosis.org.uk. Personal care Scaling and peeling skin, particularly in the most visible areas such as the scalp or face, can be difficult for building self-confidence so individuals may need extra support. General practitioners need to understand the psychological impact of the condition and provide adequate support to the family. This may require the involvement of other healthcare professionals. Further help There are a number of online forums about Ichthyosis where individuals can share their experiences and detail their own treatment recommendations. Not everything will work for everyone but these forums are a good place both to receive and offer support. Contact the Ichthyosis Support Group for information, advice, details on useful products, and to be connected with other people to share experiences and helpful advice. Download The Rare Ichthyoses Factsheet To find out more about the ISG or become a member please get in touch in one of the following ways: By Phone 0800 368 9621 By Email: [email protected] Facebook: facebook.com/ichthyosissupportgroup Twitter: twitter.com/ISG_Charity
Erythrokeratoderma Variabilis (EKV) Factsheet Expand What is Erythrokeratoderma variabilis (EKV)? Erythrokeratoderma variabilis (EKV) is a very rare, inherited skin disease. There are approximately 50 affected families in the UK. The name comes from the clinical findings of redness (erythema) and thickened skin (hyperkeratosis). When does it begin? 90% of affected individuals develop skin findings in the first year of life. What are the signs? Affected individuals have 2 major skin findings - (1) transient red patches that move around and (2) thickening of skin to form yellow-brown areas on the arms, legs and sometimes the trunk. Some patients notice the red patches are affected by changes in temperature e.g. weather or room temperature. These changes can cause discomfort to the patient. About 50% of patients have thickening or peeling of the skin on the palms and soles. Hair, nails and teeth are not involved. What is the cause? EKV usually runs in families but sporadic cases with no family history can occur. It is caused by mutations (small mistakes or faults) in genes encoding connexins (proteins that are involved in communication between cells in the upper layer of the skin). The two connexins that are mutated in about 60% of cases are connexin 30.3 and connexin 31. In about 40% of cases, no mutation is found in connexins. It is not known what gene causes EKV in these families. How is it passed on? Most cases of EKV are autosomal dominant. This means that if a parent is affected, there is a 50% chance in each pregnancy that the new-born baby will inherit the mutation from the affected parent and will develop EKV. How is EKV diagnosed? The diagnosis is usually made from the appearance of the skin lesions by a dermatologist with experience of paediatric dermatology/genetic skin disease. What is the treatment? Treatment may include the use of moisturisers and creams containing keratolytics (that remove the thickened skin) including urea, salicylic acid and propylene glycol. Patients with EKV usually respond very well to oral retinoids. Retinoids are vitamin A-derived drugs that are used to used for many forms of ichthyosis and EKV. Retinoids are teratogenic (harmful to the growing baby in the womb) and are not prescribed and must not be taken for women of child-bearing age who are planning a pregnancy. Moisturising creams and skin treatment It is very important that the skin is kept moisturised at all times and that greasy, moisturising creams and ointments are applied frequently throughout the day. Moisturising agents should be perfume-free and without additives to avoid any allergic reactions. Bath oils are important so that bathing does not cause drying or irritation of the skin. Bathing is considered to be more beneficial than showering. Emollients and keratolytic (anti-scaling) creams which contain urea, and/or lactic acid and propylene glycol (see product’s ingredients label for these) can be used to keep the skin as moist and hydrated as possible, however keratolytics can cause irritation if applied to inflamed and/or broken skin. Steroid creams should be avoided as these do not help the skin. Antibiotics are also important to treat secondary skin infections and gentle antiseptics can provide the skin with additional protection. Washing with an emollient containing an antimicrobial agent may help minimise the risk of skin infection. It is important to check with your doctor or pharmacist before trying any new treatment. It is advisable to patch test any new cream for sensitivity before general use, and even “herbal” and “natural” creams may contain unsuitable ingredients. Oral treatment (tablets) may be needed in severe ichthyosis. A group of drugs known as retinoids (synthetic vitamin A derivatives) are sometimes used (e.g. acitretin). They can reduce the thickness of the scale and help improve the appearance by reducing the overactive growth of the outer skin layer. Although often effective, they have a number of side-effects which should be fully discussed and considered before starting the tablet. Monitoring blood tests are needed while taking retinoid tablets, and pregnancy must be avoided as the drug can severely damage any unborn baby (teratogenic). Personal care Apart from keeping the skin hydrated and moisturised at all times, patients may get tired and overheated quickly when doing active sports (e.g. running, football etc). They may need to rest more than other individuals and teachers should be aware of this so they do not push children to continue participating. Individuals should be given the flexibility to access fluids throughout the day and not just when participating in sporting activities. Peeling skin, particularly on the face can be difficult for building self-confidence so individuals may need extra support. General practitioners need to understand the psychological impact of the condition and provide adequate support to the family, which may require the involvement of other health professionals. Individuals may experience scaling on the scalp, and patients should manage their scalp to lessen the scaling where possible. Please see our leaflet for advice about how to look after your scalp. More specific information on caring for the skin, eyes and ears can be found on the Ichthyosis Support Group website at www.ichthyosis.org.uk Further help There are a number of online forums where individuals can share their experiences and detail their own treatment recommendations. Not everything will work for everyone but they can be a good place both to receive and offer support. Contact the Ichthyosis Support Group for information, advice, details on useful products, and to be connected with other people to share experiences and helpful advice. Download The Erythrokeratoderma Variabilis Factsheet To find out more about the ISG or become a member please get in touch in one of the following ways: By Phone 0800 368 9621 By Email: [email protected] Facebook: facebook.com/ichthyosissupportgroup Twitter: twitter.com/ISG_Charity
X-linked Ichthyosis Factsheet Expand What is X-linked Ichthyosis (XLI)? ‘Ichthyosis’ means dry, scaly skin, which may occur as a result of an inherited genetic condition. X-linked ichthyosis (XLI) is the second most common form of ichthyosis; the most common type of dry skin is called ichthyosis vulgaris. XLI affects approximately 1 in 6000 boys/men. It only usually occurs in males because it is caused by a genetic change on the X chromosome (see below “how is the condition inherited”). What are the signs? The severity of XLI varies. Babies with XLI may show no problem with their skin at birth but they may develop areas of scaling within the first few days, weeks or months of life. Most patients develop dry scaly skin by the age of 1 year and have the condition for the whole of their life. The scales in XLI tend to be brownish in colour. They are up to a few millimetres in size and may occur all over a patient’s body, particularly on the trunk, on skin at the back of the neck and on the outer parts of the arms and legs. XLI patients may find that the skin scaling is worse in winter than in summer because cold and dry weather tends to aggravate the condition. Sometimes XLI is associated with eye changes (corneal opacities) or testicular problems (undescended testicles) or rarely a delay in intellectual development. Ladies who are carriers of XLI do not have skin problems but they may have a long or difficult labour during childbirth. How is the condition inherited? RXLI is an inherited (i.e genetic) disorder so it runs in families. As the name suggests, RXLI is linked to the X chromosome (sex chromosome). It is a recessive condition. This means that males may develop the disease but females are carriers of the disease. Men only have one X chromosome, so a baby boy with only one copy of the faulty gene will develop XLI. Women have two X chromosomes, so if a baby girl has one faulty copy of the XLI gene she is a carrier, but she is protected from developing the condition because her other X chromosome is normal. A mother with one copy of the faulty gene is a carrier of RXLI and she can give birth to an affected son. Some (approximately 1 in 2) of her female babies will also be carriers. If the father has XLI, he cannot pass this on to his son, but his daughters will be carriers of XLI. Families affected by XLI may wish to discuss these chances of passing on the condition with their doctor or a specialist before expanding their family. What genes are affected? XLI is caused by changes in the STS gene which codes for an enzyme called steroid sulphatase. XLI patients have a lower level of STS in cells throughout their body. This is particularly important in the skin, where STS regulates the chemical changes that allow dead skin to be shed from the body. When this enzyme is lacking, the dead skin cells build up as brown scales. Low STS in the placenta is thought to cause long, difficult labour in some ladies who carry an STS mutation. How is the condition diagnosed? A doctor, for example a skin specialist doctor (dermatologist), will look for the characteristic skin changes seen in XLI. Blood tests may be used to confirm the diagnosis. A blood test can be taken to check the level of steroid sulphatase (STS). The STS level is very low or completely absent in a boy or man who has XLI. Ladies carrying XLI also have lower STS levels than normal. A blood test can also be taken for genetic analysis at a national reference laboratory to check for changes in the STS gene which lead to XLI. Prenatal diagnosis of XLI is now available so that changes in STS can be detected very early in pregnancy. However these procedures are not routinely provided, so families affected by XLI are advised to discuss any concerns with their doctor. Why is X-linked Ichthyosis sometimes misdiagnosed? It is quite common for newborn babies with XLI to have healthy-looking skin at birth, making immediate diagnosis of XLI difficult. Mild scaling does generally appear within the first few days following birth, but these signs may fade within a few weeks and may not appear again as true ichthyosis until later in life. Dry skin can also be a symptom of many other skin conditions, such as the more common ichthyosis vulgaris, or eczema or, rarely, an immune deficiency disease. Looking after X-linked Ichthyosis As yet, there is no cure for XLI but continual lifelong care with moisturisers and other creams/ointments should help keep the skin as healthy as possible. Success of the treatments will depend on individuals and what works for one person may not work for another. Patients will need to consider different options to find the best for them. Moisturising creams and skin treatment It is very important that the skin is kept moisturised and that suitable emollients are applied frequently throughout the day. More greasy treatments, such as ointments, may be needed in the winter as this is when the skin tends to be at its driest. Creams or ointments containing lactic acid or urea may help to dissolve the visible scales on the skin of patients with XLI. However, these products can cause a baby’s or child’s skin to sting and so should be used with caution. The use of bath oils is important as bathing does not then cause drying or irritation of the skin and these are suitable for long-term use. Soaking in the bath for a period of time also tends to be more beneficial than a shower. In most cases, XLI is not considered severe enough to prescribe retinoid tablets as these treatments can have side effects. It is important to seek advice from a specialist dermatologist before using any new treatment for XLI to check that it is safe. More specific information on caring for the skin in XLI and other forms of ichthyosis can be found on the Ichthyosis Support Group website at www.ichthyosis.org.uk. Treatment of associated conditions About half of males with XLI and some females who carry the condition develop cloudy spots in their eyes called “corneal opacities.” These are usually identified by an ophthalmologist (eye specialist) but they do not affect eyesight. STS plays an important role in the placenta, so some female carriers of XLI experience difficulties in labour, such as a slowed birth. Carriers of the condition should let their obstetrician know beforehand so they can be prepared for the possibility of a prolonged labour. In rare cases, the genetic change that results in XLI may affect other genes nearby, if a large section of DNA is deleted. Delayed growth, delayed intellectual development and delayed puberty have all been associated with XLI. If you have concerns about these conditions with XLI, the patient should be assessed by a specialist doctor. Personal care Although scaling in XLI is usually less severe than some forms of ichthyosis, the brown appearance of these areas can cause a child’s skin to look “unwashed.” This may lead to teasing or bullying by other children during school years if they do not understand the condition and can make it hard for the patient to build self-confidence. Consequently, extra support may be needed and general practitioners need to understand the psychological impact of the condition and provide adequate support to the family. This may require the involvement of other healthcare professionals. Further help There are a number of online forums about Ichthyosis where individuals can share their experiences and detail their own treatment recommendations. Not everything will work for everyone but these forums are a good place both to receive and offer support. Contact the Ichthyosis Support Group for information, advice, details on useful products, and to be connected with other people to share experiences and helpful advice. Download The X-linked Ichthyosis Factsheet To find out more about the ISG or become a member please get in touch in one of the following ways: By Phone 0800 368 9621 By Email: [email protected] Facebook: facebook.com/ichthyosissupportgroup Instagram: instagram.com/isgcharity Twitter: twitter.com/ISG_Charity
Bullous Ichthyosis (BIE, EHK, EI) Factsheet Expand Bullous Ichthyosis (also called Bullous ichthyosiform erythroderma (BIE), Epidermolytic hyperkeratosis (EHK) or Epidermolytic ichthyosis (EI). What is ichthyosis? Ichthyosis describes dry, thickened, scaly or flaky skin. There are at least 28 different ichthyosis subtypes, which are mainly inherited (have a genetic cause). What is Bullous ichthyosis? This is a rare genetic skin disorder affecting less than 1 in 100,000 though it is likely that some mild cases are not recognised. It is characterised by blisters, skin fragility and ichthyosis. What does it look like? From birth the skin is noted to be fragile with blisters and peeling. Often there is no evidence of ichthyosis at birth and the skin appears red with superficial erosions. From early childhood the skin becomes more scaly and the redness and blistering less noticeable. The skin thickening can affect any part of the body but is most prominent on the scalp, around the neck and in the skin creases of the armpits, elbows and knees. Many patients with this condition develop thickening of the skin of the palms and soles. Older children and adults suffer from repeated skin infections especially in the skin folds. It is possible that one of the parents may have a dark warty birth mark usually in a line, which may be the only expression of this disorder. A sample of skin examined under the microscope shows the same changes as the full blown condition. It is therefore important that both parents are carefully examined. What is it caused by? Bullous ichthyosis is caused by an abnormality of one of the many proteins in the skin, keratin. There are a number of different types of keratin and this condition is related to an abnormality in keratins 1 and 10. The specific gene site has been identified. How is it inherited? It is inherited as “autosomal dominant”, which means that there is a 50/50 risk for each child, if one parent is affected. At least half the patients have no family history and represent new mutations, although the parents must be carefully examined to make sure they do not have any sign of the condition however minimal. Can it be diagnosed pre-natally if I want to have another child? It may be possible to test the baby using molecular genetic techniques by taking a biopsy from within the uterus early in pregnancy, but this is not routinely available. This would need to be discussed with your dermatologist well in advance. What are the complications? repeated infections an unpleasant odour from the skin skin fragility and painful cracks in the skin creases thickening of the palms and soles is often a problem psychological upset with difficulties at school and work Managing bullous ichthyosis As yet, there is no cure but continual lifelong care with moisturisers and anti-infection treatments should help keep the skin as healthy as possible. Success of the treatments will depend on individuals, and what works for one person may not work for another. Patients will need to consider different options to find the best for them. Moisturising creams and skin treatment It is very important that the skin is kept moisturised at all times and that greasy, moisturising creams and ointments are applied frequently throughout the day. Moisturising agents should be perfume-free and without additives to avoid any allergic reactions. Bath oils are important so that bathing does not cause drying or irritation of the skin. Bathing is considered to be more beneficial than showering. Emollients and keratolytic (anti-scaling) creams which contain urea, and/or lactic acid and propylene glycol (see product’s ingredients label for these) can be used to keep the skin as moist and hydrated as possible, however keratolytics can cause irritation if applied to inflamed and/or broken skin. Steroid creams should be avoided as these do not help the skin. Antibiotics are also important to treat secondary skin infections and gentle antiseptics can provide the skin with additional protection. Washing with an emollient containing an antimicrobial agent may help minimise the risk of skin infection. It is important to check with your doctor or pharmacist before trying any new treatment. It is advisable to patch test any new cream for sensitivity before general use, and even “herbal” and “natural” creams may contain unsuitable ingredients. Oral treatment (tablets) may be needed in severe ichthyosis. A group of drugs known as retinoids (synthetic vitamin A derivatives) are sometimes used (e.g. acitretin). They can reduce the thickness of the scale and help improve the appearance by reducing the overactive growth of the outer skin layer. Although often effective, they have a number of side-effects which should be fully discussed and considered before starting the tablet. Monitoring blood tests are needed while taking retinoid tablets, and pregnancy must be avoided as the drug can severely damage any unborn baby (teratogenic). Non adherent dressings can be helpful in the treatment of fragile skin and blisters in Bullous ichthyosis. More specific information on caring for the skin, eyes and ears in Bullous ichthyosis and other forms of ichthyosis can be found on the Ichthyosis Support Group website at www.ichthyosis.org.uk Eye treatment Some patients find that using moisturising eye drops can help prevent the eyes from becoming too dry. An ophthalmologist (eye doctor) may be contacted if ectropion (everted eyelids) is preventing the eyelids from closing at night but surgery for this condition is not generally recommended. Ear treatment Patients may experience a build up of dead skin in their ears and regular appointments with the Ear, Nose and Throat department at the local hospital should help to prevent problems such as potential impaired hearing. Physiotherapy Patients with Bullous ichthyosis may have problems with flexibility in their fingers, known as contractures. This is when the elastic tissue in these appendages is replaced with non-elastic tissue. Some individuals find that physiotherapy and splinting at night can help relieve this problem. Personal care Apart from keeping the skin hydrated and moisturised at all times, patients may get tired and overheated quickly when doing active sports (e.g. running, football etc). They may need to rest more than other individuals and teachers should be aware of this so they do not push children to continue participating. Individuals should be given the flexibility to access fluids throughout the day and not just when participating in sporting activities. Peeling skin, particularly on the face can be difficult for building self-confidence so individuals may need extra support. General practitioners need to understand the psychological impact of the condition and provide adequate support to the family, which may require the involvement of other health professionals. Individuals may experience thick scaling on the scalp and patients should manage their scalp to lessen the scaling where possible. Please see our leaflet for advice about how to look after your scalp. Further help There are a number of online forums about BIE where individuals can share their experiences and detail their own treatment recommendations. Not everything will work for everyone but they can be a good place both to receive and offer support. Contact the Ichthyosis Support Group for information, advice, details on useful products, and to be connected with other people to share experiences and helpful advice. Download The Bullous Ichthyosis Factsheet To find out more about the ISG or become a member please get in touch in one of the following ways: By Phone 0800 368 9621 By Email: [email protected] Facebook: facebook.com/ichthyosissupportgroup Twitter: twitter.com/ISG_Charity
Guide for Carers and Teachers Expand What is ichthyosis? The name ichthyosis covers a family of related disorders whose primary symptoms include dry, thickened and scaly skin. In some forms, the skin blisters and peels. The skin may become darkened rough and appear as scales separated by deep cracks. It is an inherited, genetic disease which may be present at birth, or appear later in life. It is not contagious. The body’s ability to produce the outermost layer of the skin is disrupted. The outer layer is either manufactured too rapidly, or fails to shed normally from the skin surface. Symptoms of ichthyosis Symptoms vary significantly from child to child. Mild forms, such as ichthyosis vulgaris may appear only as dry skin affecting such areas such as the hands and feet, whilst others exhibit total body involvement. The skin may be reddish, extremely flaky, or the body may be covered in plate-like scales. Hair growth may be retarded if the scalp is affected. Problems The following problems may be encountered:- Susceptibility to infection due to cracks or breaks in the skin’s barrier. This may be more prevalent in cold weather. Difficulty with achievement of gross or fine motor skills due to tautness of the skin on the hands, and cracking of the skin on the soles of the feet. (Some children have problems wearing shoes). Sensitivity to bright sunshine and/or increased susceptibility to eye irritation resulting from the pulling away of the margins of the eyelids due to the tautness of facial skin. Overheating resulting from active play and/or too warm an environment. This is due to the body’s inability to sweat through pores that are blocked by thickened skin. Excessive water loss through the skin, leading to dehydration in extreme situations. The skin’s barrier function becomes disrupted. Body odour resulting from normal accumulation of bacteria between and beneath scales. Possible hair loss, receding hairline, and/or excessive dandruff. Hearing impairment due to exfoliated skin binding with natural waxes blocking the ear canal. Itching as a result of dryness of the skin. Side effects from medications. Carer’s Involvement Toddlers & Pre-schoolers Let the child explore his environment, do not over-protect. Allow child to overcome separation anxiety to which he/she may be vulnerable, through literature and open-ended dramatic play. The child then has opportunities to explore his/her feelings about separation. Encourage the child to tell other children that he/she has ichthyosis, a genetic disorder. It is essential that children be allowed to articulate their own grasp of the situation. Explain to the child’s peers the reasons for visible differences. Open and positive responses to other children’s questions will set the tone for how children deal with more general differences. School Age Children Be aware of signs of overheating. Reddening of the skin, particularly the face (usually the first sign, though not necessarily an indicator of serious overheating). In hot weather, or in a very warm environment, the child must have easy access to drinking water. The child should perceive that teachers/carers are supporters in this respect, rather than obstacles to comfort and health. Interrupting the game or activity that causes the overheating should be allowed so that the child can rest and apply damp cloths to reduce the temperature. Irritability, listlessness, lethargy and weakness may be the outcome of overheating, so that the child is labelled slow, lazy or a poor athletic performer by uninformed teachers. The child is then at risk of developing poor self-esteem. Teachers and N.T.A.’s must have the same academic expectations for children with ichthyosis that they have for ‘normal’ children. Social isolation, teasing, ridicule and bullying should be handled carefully. A true balancing act is needed, on the one hand being supportive, whilst at the same time not singling the child out for special attention, which could cause further ostracism and ridicule. General class discussions about prejudice, differences and the reasons for them, and friendships may address these important issues without focusing on a child with ichthyosis. At the beginning of a school year, it is important that all teachers/carers are aware of any problems so as to ascertain the child’s base level of comfort and physical mobility. It is difficult for a child to concentrate on learning if the skin is taut, cracked, sore or itching. The child’s parents are the best source for this information as well as day-to-day requirements. These may include the need to apply topical creams and lotions to moisturise the skin during the school day. Provision should be made to allow the time and privacy for this. This should be carried out to fit around the normal school day so it does not affect the child thus possibly making them feel isolated. Children with Epidermolytic Hyperkeratosis (or more simply, EHK), which is also known as Bullous Congenital Ichthyosiform Erythroderma (BCIE) should have access to a topical antibiotic to be applied to incidental cuts and scratches. Children of all ages should be encouraged to be active participants in their own treatment in order to create a responsibility for self care. Teenagers By this time, teenagers have probably mastered the physical management of ichthyosis. The need for social acceptance becomes paramount. At this stage, the teacher in charge of pastoral care can be supportive in the role of listener and mentor as well as help the teenager to coping mechanisms and a personal style that works best for them. Keys points to remember: - Start with the positive, focusing on the things in which the student excels. Respect the child’s/teenager’s physical limitations, and endeavour to find meaningful and productive alternatives when outdoor activities are limited. Communicate to fellow pupils that difference is not bad. Answer questions about all physical differences with openness and frankness. Bullying and depression are only heightened by the ignorance that grows out of evading the issue altogether. Download the Guide for Carers and Teachers To find out more about the ISG or become a member please get in touch in one of the following ways: By Phone 0800 368 9621 By Email: [email protected] Facebook: facebook.com/ichthyosissupportgroup Twitter: twitter.com/ISG_Charity
Overview of Ichthyosis Factsheet Expand What is ichthyosis? Ichthyosis, pronounced Ick-thee-o-sis (which comes from the Greek word meaning ‘fish’) describes a group of conditions in which the skin is dry and scaly. Lots of people have dry skin conditions (such as eczema or psoriasis) but they tend to be patchy and they come and go. By contrast, in ichthyosis the scaling is continuous and usually affects the whole body. Most types are congenital, meaning that they are present at birth, and inherited, meaning that they result from genetic changes, so they may run in families. More information on this can be found in the ‘What is meant by congenital ichthyosis leaflet’. You are likely to have lots of questions and concerns about ichthyosis which you may wish to discuss with your doctor, but the following section may help to answer some questions which individuals and parents often ask. What causes the scaling in ichthyosis? The skin is made up of millions of tiny cells joined together to form our protective covering. Skin is a living organ which has to grow, adapt and respond to damage. It is constantly shedding (or exfoliating) and being replaced, and these processes are controlled by genes. Mistakes (‘mutations’) in genes cause malfunction. Ichthyosis is caused by mutations in genes that control the formation of skin cells, so they don’t function properly. Different types of ichthyosis are caused by mutations in diff erent genes: in some, skin cells are formed at a faster rate than they are needed and they pile up on the skin surface, thickening the skin. In other forms, the cells are produced at the normal rate but instead of brushing off when they reach the surface, they cannot become detached from the cells beneath them and so they build up in layers. Either way, the end result is ichthyosis. Can ichthyosis be treated? There is no cure for ichthyosis at present, but it is possible to manage the symptoms. The main aim of treatment is to improve the condition of the skin (make it less dry and less scaly, for example) and to relieve discomfort. This is primarily achieved through regular, intensive (at least twice daily) use of moisturisers, sometimes with antiseptics or antibiotics, and occasionally with retinoids – a group of drugs that can reduce skin scaling – and other medicines as needed. Treatment is dealt with in more detail in the ‘Managing Ichthyosis leaflet’. There are many different types of ichthyosis. Some are listed in the table below. Please note that this is not an exhaustive list of all forms of ichthyosis and there are a number of other syndromes with ichthyosis. This information focuses on the forms of ichthyosis relevant to the majority of ichthyosis patients. Some of the rarer forms (or related syndromes) are dealt with in the ‘Rarer forms of ichthyosis’ leaflet. Leaflets about specific conditions can also be found on our website. Living with ichthyosis The congenital (inherited) forms of ichthyosis tend to persist throughout life, although the symptoms may become milder as time goes on. If you have a child with ichthyosis you may need to help them deal with people’s reaction to the appearance of ichthyosis, or if you have the condition yourself you may have experienced unhelpful reactions first hand – this can seem hostile and unsympathetic and while it often stems from ignorance, the effect on you or your child should not be underestimated. Two of the most difficult times are when a child starts school, and potentially has to deal with the staring and teasing on their own for the first time, and during the teenage years when it is so important not to be different from your peers. As an adult you may also experience diffi cult times when starting college, university, a new job or starting new relationships. The ISG has two leaflets – ‘Growing up with ichthyosis’ (for teenagers and young adults) and ‘What’s it like to have ichthyosis?’ (for younger children) to address some of these issues. There is also a leaflet that you can give to teachers, group leaders and others who may care for your child to help explain a bit about ichthyosis and the things that they need to watch for. The ISG exists to help people like you and children with ichthyosis, by providing opportunities to meet other families and individuals with the condition to share experiences, and hints and tips for managing the condition. You may also find our leaflets on dealing with healthcare professionals and how to explain the condition to teachers, childminders etc useful. Please contact the ISG for more information, advice, details on useful products, and to be connected with other people to share experiences and helpful advice. Download The Overview of Ichthyosis Factsheet To find out more about the ISG or become a member please get in touch in one of the following ways: By Phone 0800 368 9621 By Email: [email protected] Facebook: facebook.com/ichthyosissupportgroup Twitter: twitter.com/ISG_Charity
Collodion Baby Factsheet Expand What is meant by the term collodion baby? All parents hope that their new born baby will be entirely healthy. Words can not easily express the initial distress and shock of being told you have a collodion baby especially as parents receive little information about the condition in the first few days after birth. This article attempts to provide such information and answer some of the most frequently asked questions about collodion babies: The term ‘collodion baby’ does not refer to a medical condition but to the baby’s appearance. Collodion babies appear to have an extra skin – parents have described it as being like a sausage skin or a shiny film, as if they had covered the baby in Vaseline®. The skin is tight, and this may make the eyelids and lips look as if they are being forced open. Unfortunately, collodion skin is only rarely detected during pregnancy; the first thing that usually happens for the parents is either a doctor or midwife explaining that something is wrong and actually seeing the baby themselves with abnormal looking skin. Collodion babies are rare, so it is quite likely that the midwife and other medical professionals present at your baby’s birth know very little about this condition. This can be very distressing for parents, who naturally have lots of questions and want to know what can be done to help their child. What causes the collodion skin? We do not know the exact cause but the collodion skin is usually due to an inherited or genetic abnormality in normal skin shedding. Usually, surface skin cells rub away in the course of daily life (even in the womb) and are replaced with new ones. There are a number of genetic faults (also known as gene mutations) that can prevent this from happening. These are usually associated with a group of skin conditions which together are known as ‘ichthyosis’ (from the Greek word meaning ‘fish’). This is a condition in which the skin is dry and scaly. Will the collodion skin go away? Yes. The outer skin layer will usually be shed within a few days; occasionally this process may take longer – perhaps 1-2 weeks. The shedding process may reveal normal skin in about 1 in 10 collodion babies or in the majority one of the forms of ichthyosis – most probably Lamellar ichthyosis or Non-bullous ichthyosiform erythroderma, but very rarely one of the ichthyosis syndromes associated with other organ involvement. Frustratingly we can’t predict which of the above will happen. Is my baby likely to have internal problems too? No, in the vast majority of cases the problem is confined to the skin. Is my baby in pain? Specialists in ichthyosis think that the collodion skin does not cause pain or distress to the baby but it is necessary to keep the skin moist, because otherwise heat and fluid can be lost through the abnormal skin, which will affect the baby’s general health. For this reason the medical team may want your baby to spend a few days in a humidified incubator and they will also apply appropriate moisturisers to keep your baby comfortable. What happens next? Very soon after the birth, the midwife will have referred you and your baby on to a paediatrician (a doctor specialising in the treatment of children). It is likely that you will also see a dermatologist (skin specialist) within the first few days. Even dermatologists do not see this condition very frequently, however, and so they may choose to refer you on to a paediatric dermatologist (who specialises in children’s skin conditions) for assessment. It may be that this expertise is not available locally and you will have to travel some distance to appointments. The dermatologist will arrange for tests to make a complete diagnosis of your child’s condition and will advise you on how to care for them. I’m not sure I can cope – where can I find help? Collodion skin is rare, and because the doctors and nurses around you may not recognise and understand it, you could feel that you are having to cope on your own. The Ichthyosis Support Group (ISG) exists to provide you with psychological support and practical information. This in many ways is the best advice as it comes from people who have asked the same questions and experienced the same emotions that you are currently experiencing. We have other leaflets about congenital (inherited) ichthyosis and its treatment and leaflets that help you to explain the condition to your child, other children, doctors and other people who look after your child that you can download. You can also use the website or facebook to ask questions about ichthyosis and to share suggestions and tips that work for your child and to find out about events for families of children with ichthyosis so that you (and your child) will know that you are not alone and that there are other people who understand what you are going through and can help you. Download The Collodion Baby Factsheet To find out more about the ISG or become a member please get in touch in one of the following ways: By Phone 0800 368 9621 By Email: [email protected] Facebook: facebook.com/ichthyosissupportgroup Twitter: twitter.com/ISG_Charity
ISG Leaflet Expand Reaching out to those living with ichthyosis Are you affected by dry, scaly, inflamed or thickened skin? Ichthyosis – pronounced ick-thee-o-sis – is a term used to describe continual scaling of the skin. People with the condition have persistently dry, flaky, fish-scale like skin which may also be inflamed or thickened. Ichthyosis affects most, if not all, areas of the skin and is fairly consistent over the years. This is in contrast to other skin disorders, such as eczema or psoriasis, where scaling affects limited areas and changes frequently. Ichthyosis is rare and can be inherited or develop later in life (acquired). The inherited forms are usually evident at, or soon after, birth and tend to persist throughout life – although some milder types may improve slightly with age. Most people with ichthyosis will have inherited a particular faulty gene from their parents, which affects the rate at which their skin regenerates. This results in either the old skin cells shedding too slowly or the skin cells reproducing at a much faster rate than they can shed old skin. Either way, this causes a build-up of scaly skin. There are many types of ichthyosis. All types cause dry, scaly skin but it looks slightly different depending on which type you have. The most common form of ichthyosis is Ichthyosis vulgaris (pictured). Some of the much rarer forms include: X-linked ichthyosis Non-bullous ichthyosiform erythroderma or Congenital ichthyosiform erythroderma Lamellar ichthyosis Bullous ichthyosiform erythroderma or Epidermolytic hyperkeratosis (EHK) Harlequin ichthyosis Netherton syndrome Acquired ichthyosis is fairly mild and develops in adulthood. It can be associated with other illnesses. For more information on the different types of ichthyosis visit ichthyosis.org.uk Looking after your skin The milder forms of ichthyosis can be managed by regular moisturising, to help alleviate cracking and reduce the build up of skin cells. Your dermatologist will prescribe, or recommend, suitable emollients, including bath oils, soap substitutes and moisturising creams or ointments. People with severe ichthyosis may need to spend an hour or more a day treating their skin and some may be prescribed retinoid tablets (vitamin A), which lessen scaling in a few forms of ichthyosis. Babies with severe forms of the condition can be quite unwell and may be admitted to a special care baby unit. The benefits of membership... “I’ve often thought that the name ‘Ichthyosis Support Group’ doesn’t do the charity justice. They do so much more than this, including passing on valuable information to sufferers, keep a track on breakthrough treatments for ichthyosis from around the world and lobby for better treatment for ichthyosis sufferers. Not just a support group, a much needed ‘service’ for those that need it most.” Laura Levy, ISG member and a Mother to Son with ichthyosis. People who care about ichthyosis… Formed in 1997, by a group of individuals affected by ichthyosis, the Ichthyosis Support Group (ISG) is here for you if you suffer from the condition or care for someone who does. A registered charity, we are YOUR support group – so why not join us and become a member? The ISG provides... Information and advice about living with ichthyosis Regular contact to keep you up to date Advice from our Medical Advisory Board Links to a Support Team Access to our annual event – bringing families together to share experiences and to learn about living with ichthyosis What does the ISG do... Lobby for greater research into ichthyosis Raise awareness of ichthyosis and promote greater understanding within the medical profession Fund research Share information within the European Network for Ichthyosis ISG Vision “The ISG is committed to the on-going provision of an information network and support structure for sufferers and families affected by ichthyosis. Associated with that we need to create a greater awareness and understanding within the medical profession, and lobby for greater research into this distressing condition.” Download The ISG Leaflet To find out more about the ISG or become a member please get in touch in one of the following ways: By Phone 0800 368 9621 By Email: [email protected] Facebook: facebook.com/ichthyosissupportgroup Twitter: twitter.com/ISG_Charity
Retinoids for Ichthyosis Expand What are retinoids? Retinoids are drugs derived from Vitamin A which are used to treat a number of skin conditions. The most common are acetretin (Neotigason) for the treatment of ichthyosis and isotretinoin (Roaccutane) for the treatment of severe forms of acne. How does acetretin help Ichthyosis? Natural retinoids are required for normal growth and development of many cells and tissues. The process by which new cells grow and develop is called differentiation. For cells which are not growing normally additional retinoid can push their development towards normal. So for ichthyosis the acetretin will help the skin cells grow and differentiate more normally. This process of skin maturation is known as keratinization. What is acetretin? Acetretin is a retinoid which is a metabolite of etretinate. It has a relatively short half-life, but etretinate, which has a much longer half-life, has been detected in the blood long after the drug has been stopped. This has important implications on avoidance of pregnancy (see adverse side effects). Acetretin is the active ingredient of Neotigason manufactured by Roche Products Ltd. It is available as capsules in two strengths: 10mg and 25mg. There is no liquid preparation. Who should receive treatment with acetretin? Individuals with the most severe forms of ichthyosis. It can only be prescribed and supervised by a hospital based specialist (usually a Consultant Dermatologist). Before starting treatment blood tests and X-rays will need to be performed as a baseline assessment. Adverse effects For females of child bearing age, pregnancy must be avoided and for at least 2 years (3 years in the US) after stopping treatment. Retinoids are potentially teratogenic, that is they can affect the baby in the womb and cause serious fetal abnormalities. Dryness of the mucous membranes (mouth, lips, inside the nose, eyes) and peeling of the palms and soles are common. The use of a moisturising agent, especially on the lips is usually sufficient. Occasionally blood test abnormalities can occur, such as an increase in fats (triglycerides and cholesterol) or disturbance in function of the liver. Hence the need to do regular blood tests. If an abnormality is detected, reducing the dose or temporarily stopping the drug is all that is usually necessary. Beware of excessive sun exposure and use an appropriate high factor sunscreen. Hair loss, which is temporary and returns to normal after the dose is reduced or the drug is stopped. Rarely it causes some aches and pains in muscles and joints. Longterm treatment with acetretin has been associated with certain abnormalities. This is exceptional and relates to length of treatment and high dose. If the dose is kept to a minimum and the patient is regularly supervised then this can be detected at an early stage. Normally the changes do not cause any pain or discomfort. If there is any cause for concern an X-ray would be indicated. How long can treatment be continued? The manufacturers recommend that continuous treatment should not last longer than 6 months; however, in clinical practice and reported studies there are now a significant number of patients who have been on retinoids for over 5 years, some for greater than 10 years. If there is a good response to treatment, acetretin can be continued safely long-term with appropriate monitoring. Intermittent treatment is preferable, if this can be achieved. What is the future of retinoids? Initially etretinate (Tigason) and more recently acetretin (Neotigason), have provided a significant contribution to the management of severe ichthyosis. Hopefully in the future there will be new retinoid drugs which are as effective, but even safer. A better understanding of the mechanism of action of these drugs and new advances in molecular genetics will eventually lead to more specific therapies for the ichthyoses Contact the Ichthyosis Support Group for information, advice, details on useful products, and to be connected with other people to share experiences and helpful advice. Download The Retinoids for Ichthyosis Factsheet To find out more about the ISG or become a member please get in touch in one of the following ways: By Phone 0800 368 9621 By Email: [email protected] Facebook: facebook.com/ichthyosissupportgroup Twitter: twitter.com/ISG_Charity
Questions to Ask at Doctors & Hospital Appointments Expand Before you leave your appointment make sure you know the following: What might be wrong? You could ask the following questions: ● Can I check that I’ve understood what you said? What you’re saying is… ● Can you explain it again? I still don’t understand. ● Can I have a copy of any letters written about me? What about any further tests, such as blood tests, scans and so on? ● What are the tests for? ● How and when will I get the results? ● Who do I contact if I don’t get the results? About what treatment, if any, is best for you ● Are there other ways to treat my condition? ● What do you recommend? ● Are there any side effects or risks? ● How long will I need treatment for? ● How will I know if the treatment is working? ● How effective is this treatment? ● What will happen if I don’t have any treatment? ● Is there anything I should stop or avoid doing? ● Is there anything else I can do to help myself? What happens next and who to contact ●What happens next? Do I come back and see you? ● Who do I contact if things get worse? ● Do you have any written information? ● Where can I go for more information, a support group or more help? Top tips Before your appointment ● Write down your two or three most important questions. ● List or bring all your medicines and pills – including vitamins and supplements. ● Write down details of your symptoms, including when they started and what makes them better or worse. ● Ask your hospital or surgery for an interpreter or communication support if needed. ● Ask a friend or family member to come with you, if you like. During your appointment ● Don’t be afraid to ask if you don’t understand. For example, ‘Can you say that again? I still don’t understand.’ ● If you don’t understand any words, ask for them to be written down and explained. ● Write things down, or ask a family member or friend to take notes. Before you leave your appointment ● Check that: – you’ve covered everything on your list – you understand, for example ‘Can I just check I understood what you said?’ – you know what should happen next – and when. Write it down. ● Ask: – who to contact if you have any more problems or questions – about support groups and where to go for reliable information, and – for copies of letters written about you – you are entitled to see these. After your appointment, don’t forget the following ● Write down what you discussed and what happens next. Keep your notes. ● Book any tests that you can and put the dates in your diary. ● Ask: – ‘what’s happening if I’m not sent my appointment details,’ and – ‘can I have the results of any tests?’ (If you don’t get the results when you expect – ask for them.) Ask what the results mean. Download The Questions to Ask at Doctors & Hospital Appointments Factsheet To find out more about the ISG or become a member please get in touch in one of the following ways: By Phone 0800 368 9621 By Email: [email protected] Facebook: facebook.com/ichthyosissupportgroup Twitter: twitter.com/ISG_Charity
Palmoplantar Keratoderma (PPK) Factsheet Expand What is Palmoplantar keratoderma? “Palmoplantar” means palms of the hands and soles of the feet, and “keratoderma” means thickened skin. So palmoplantar keratoderma is a disorder in which the skin of the palms and soles is abnormally thick. It is rare, and it often runs in families. There are different types, but all members of the same family will have the same type. What does it look like? The palms and soles may look normal at birth, or slightly whitish. Later the affected skin becomes thickened. Sometimes it first appears when the child starts to walk, and most types become more apparent with friction and with age. The affected skin may be red and flaky, or hard and yellowish. In some types the keratoderma affects the whole surface of the palms and soles, in others it is streaky or patchy like corns (calluses). Sometimes it extends round the sides to the backs of the fingers and tops of the toes – this is called a “trangrediens” pattern. What problems does it cause? Palmoplantar keratoderma can cause difficulty with walking, because of pain in the feet. The thick skin and sweating of the feet makes them particularly susceptible to odour, and to fungal infection (athlete’s foot). The thick skin on the palms may reduce sensitivity in the finger tips, impairing manual dexterity. All these problems, together with the unusual appearance can be stressful and lead to psychological difficulties. Is palmoplantar keratoderma associated with other medical problems? The vast majority of people with palmoplantar keratoderma are otherwise completely healthy. But some rare types of palmoplantar keratoderma are associated with other skin problems such as dry skin all over (“ichthyosis”), problems with the nails, hair or teeth, deafness, or other medical problems. What causes palmoplantar keratoderma? The palmoplantar keratodermas are caused by abnormal proteins in the superficial layer of skin (epidermis). We have several genes responsible for producing these proteins. A mistake (mutation) in any one of these genes causes production of a faulty protein, and this in turn affects the structure of the skin of the palms and soles. Most cases of palmoplantar keratoderma are caused by mutations in the gene that produces an epidermal protein called keratin 9. But there are several other genes and mutations responsible for the rarer types of palmoplantar keratoderma. Where does the mutation come from? Many patients with palmoplantar keratoderma inherit the condition from their father or mother. This is called “autosomal dominant inheritance”. They in turn are likely to pass it on to half of their children. Some people with palmoplantar keratoderma cannot trace it back to their father or mother, but have an affected brother or sister, or other more distant relative. This is called “autosomal recessive inheritance”. Both their parents are “carriers” of the mutation but do not show the condition. People with autosomal recessive PPK do not pass it on to their children unless they marry another person carrying the same mutation, because the faulty gene has to come from both parents. About half of people with palmoplantar keratoderma have no family history of the condition at all. In these cases the mutation has happened during their embryonic development. We do not know why it happens, and once it has appeared it can be passed on to future generations. How is palmoplantar keratoderma treated? At present there is no cure for palmoplantar keratoderma. The skin cells are programmed to make a faulty protein and this cannot be corrected. But the symptoms can be improved by the following measures: Regular use of moisturising creams and ointments The use of simple antiseptics if odour is a problem Antifungal cream or tablets if fungal infection is present Regular chiropody to pare down the thick skin Customised insoles to relieve pressure-points on the feet In severe cases a dermatologist may prescribe the drug acitretin. This thins the affected skin. Treatment has to be closely monitored to avoid excessive thinning of the skin and various side-effects of the drug. It is a drug that must never be taken during pregnancy because it can damage the baby. Download The Palmoplantar Keratoderma Factsheet To find out more about the ISG or become a member please get in touch in one of the following ways: By Phone 0800 368 9621 By Email: [email protected] Facebook: facebook.com/ichthyosissupportgroup Twitter: twitter.com/ISG_Charity
Write to your MP about emollient prescribing issues Expand Some people with ichthyosis are experiencing problems obtaining cream, lotions and/or clothing garments on prescription from their GP. Some of these issues are as a result of guidelines issued by NHS England that are being misinterpreted by your local Clinical Commissioning Group (clinically-led statutory NHS bodies responsible for the planning and commissioning of health care services in your local area/GP). Parliamentarians have told skin patient groups that they are rarely made aware of dermatological concerns, and therefore are oblivious to any issues. In fact, some MPs have stated that they have never had any correspondence on skin issues. This is deeply concerning since MPs are elected officials that are there to serve us. Therefore, if you have any significant concern with your dermatology care, such as being wrongfully denied treatments, then you should consider writing to your MP so that they can address it. MPs can not only attempt locally and confidentially to address your individual issue by writing or speaking to the local health agencies and commissioners, but they can also seek to influence national policy by raising the broader issue within Parliament. This includes asking parliamentary questions, writing to the Department of Health and Social Care, leading a debate or meeting Ministers. A couple of MPs have agreed to lead within Parliament on a dermatology issue recently raised to them – patients struggling to access appropriate dermatological treatments. Patient groups have informed MPs that refusing access to or rationing of some dermatology treatments, particularly emollients, is occurring. The All Party Parliamentary Group on Skin (APPGS) told them this threatens the health and well-being of millions of people with inflammatory skin conditions. Importantly, this is contrary to clinical guidelines which recommend their use, and leads to significantly worse patient health outcomes. The APPGS have written a template letter which they and us would greatly appreciate you considering sending to your local MP. MPs welcome correspondence from constituents (you) and will try to respond to every constituent. We hope that your letter will lead to your local MP taking up the cause on your behalf within Parliament. If enough MPs are prepared to send questions to the Department of Health and Social Care, which shows broad support on the issue, then we will be able to encourage the MPs leading on this issue to go to the Secretary of State for Health with all our concerns and seek meaningful commissioning change. The patient voice has become extremely important and MPs do take note so please write to your local MP if you experience issues with obtaining items to manage your ichthyosis on prescription. When corresponding with MPs they require your address and full name. A simple method for writing to your MP online can be found by typing your postcode in here (opens in new tab), clicking on the MP and then filling out all the details. A letter does not need to be extensive or long. It should succinctly outline your grievances and the steps you would like the MP to take. You can find your MP's contact details via www.parliament.uk (opens in new tab). Click here (opens in Word) to download the template letter to send to your MP. To find out more about the ISG or become a member please get in touch in one of the following ways: By Phone 0800 368 9621 By Email: [email protected] Facebook: facebook.com/ichthyosissupportgroup Twitter: twitter.com/ISG_Charity
Skincare Treatments Expand Bath Oils are solubilising agents designed to disperse in water leaving a fine film over the entire body. help to hydrate the skin as well as soften it. Ointments (oil/grease) are occlusive and have a softening protective action on the skin. are useful for dry scaling areas. are not water soluble and so difficult to wash off. are not suitable for wet/weeping areas of the skin as they seal in moisture and keep the area warm, this may result in further damage to the skin. Creams (water/oil) mix easily with body fluid therefore drainage is not impaired. are water soluble and easily washed off. are soothing to dry skin. Keratolytics are preparations that contain salicylic acid, lactic acid and urea's. They can cause irritation to inflamed and/or broken skin and may be absorbed through the skin. Use under the guidance of a medical professional. Keratolytic agents are used to induce desquamation (shedding) of the horny layer (outside layer) without affecting the function of the epidermis. Notes Part of the reason the skin is dry is because it lacks moisture, therefore the aim is to hydrate the skin as much as possible. Using bath emollients will help to soften and hydrate the skin. Applying greasy emollients to the entire body after bathing will help to seal in moisture to the outer layer (stratum comeum), minimising cracks and fissures. These emollients should be applied at least 4 hourly by day. The older child and adults may require medicated shampoo's designed to loosen scale. A fine comb should be used to gently remove the scale. Never be tempted to force the scale off as this can damage the root and can aggravate hair loss. Important points to remember Creams/ointments that do not come in a pump dispenser should be decanted out on to a saucer by means of a spoon. This will reduce the risk of contamination that may result from dipping fingers into it. In hot weather it may be necessary to discontinue the ointments and change to a cream, as ointments can cause the sufferer to feel uncomfortable and it will also reduce the risk of overheating. This information is for advice only, please consult your doctor before altering any treatment. Download The Skincare Treatments Factsheet To find out more about the ISG or become a member please get in touch in one of the following ways: By Phone 0800 368 9621 By Email: [email protected] Facebook: facebook.com/ichthyosissupportgroup Twitter: twitter.com/ISG_Charity