Rare Ichthyoses 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. 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.
Collodion Babyold Expand 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 ichthyosiformerythroderma, 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 willadvise 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.
Ichthyosis Vulgaris and Acquired Ichthyosis 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. 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.
Ichthyosis Awareness Cards Expand If you get frustrated with other people's reactions or comments about your ichthyosis we can help. We have awareness cards that you can hand to someone to educate them. Please visit our online shop to order some cards.
Lamellar Ichthyosis 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.
Harlequin Ichthyosis Expand What is Harlequin ichthyosis? This is an extremely rare and severe inherited (genetic) ichthyosis. There are approximately five such children born in the UK each year and some may be stillborn. The name comes from the appearance of the skin at birth. What does it look like? Affected babies are born prematurely and small for dates. The skin is covered in tight, thick, plates of hard scale and resembles armour plating or the harlequin suit of a jester. It splits at several areas causing deep cracks. The face looks stretched with turned out lips and eyelids, and the ears, hands and feet may be hidden in the scale. The eyes may be invisible because they are temporarily covered by the swollen eyelids. The baby’s movement and ability to suck is affected and they suffer all the problems of leaky skin. They become dehydrated and have poor temperature control, difficulty feeding and sometimes breathing and are also at risk of serious infection. What happens next? The baby will be nursed in an incubator and have intensive care to cope with all the expected problems. Skin creams and perhaps retinoid medicine will help the scale plates to shed in a few weeks. Then the skin will appear red, tight and scaly all over and this is usually an ongoing problem. The eyes reappear and may need to be protected with bandages or a small operation as the eyelids do not cover them fully. Special feeding and other treatments are often needed and things may not always go well. Children who survive are affected with severe inflamed ichthyosis and may be small and scarred in places. They will need ongoing intensive skin treatment with creams and courses of retinoid medicine and many require physiotherapy, counselling and extra tuition. What is the cause and can it be prevented? Harlequin ichthyosis comes out of the blue. The parents of an affected baby are carriers and will have a one in four risk of any future baby of theirs being similarly affected. This is another genetic disease due to a single important skin gene being faulty or mutated. In this case, the mutation is in ABCA12, a gene thought to be involved in transport of lipids (fats) into the spaces between the cells in the skin’s uppermost layer. These lipids act as a protective barrier against bacteria and infection. Harlequin ichthyosis cannot be prevented but it is possible to diagnose or recognise it early in pregnancy by removing some of the amniotic fluid surrounding the developing foetus to identify if there is a mutation in ABCA12. This allows the family to decide if they wish to continue or terminate the pregnancy. It is also feasible that preimplantation diagnosis may be available in the near future. Preimplantation testing is a relatively new way to look even earlier into the genes of the developing embryo. In preimplantation diagnosis a normally fertile couple will choose to undergo in-vitro fertilization and then test each of the embryos for a genetic disease, in this case harlequin ichthyosis, before they are transferred to the mother’s womb. Preimplantation diagnosis is difficult, costly and not widely available, but is still an exciting possibility for parents who have already had a child with harlequin ichthyosis. The finding of a gene for harlequin ichthyosis may also allow development in the future of a specific treatment to replace the missing protein in the upper layers of the skin in this disease. There are families with one or more children with Harlequin ichthyosis who live happy and relatively normal lives. There are one or two adults with Harlequin ichthyosis who now have their own children.