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
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
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
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
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
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