Questions to Ask at Doctors & Hospital Appointments Expand Before you leave your appointment make sure you know the following: What might be wrong? You could ask the following questions: ● Can I check that I’ve understood what you said? What you’re saying is… ● Can you explain it again? I still don’t understand. ● Can I have a copy of any letters written about me? What about any further tests, such as blood tests, scans and so on? ● What are the tests for? ● How and when will I get the results? ● Who do I contact if I don’t get the results? About what treatment, if any, is best for you ● Are there other ways to treat my condition? ● What do you recommend? ● Are there any side effects or risks? ● How long will I need treatment for? ● How will I know if the treatment is working? ● How effective is this treatment? ● What will happen if I don’t have any treatment? ● Is there anything I should stop or avoid doing? ● Is there anything else I can do to help myself? What happens next and who to contact ●What happens next? Do I come back and see you? ● Who do I contact if things get worse? ● Do you have any written information? ● Where can I go for more information, a support group or more help? Top tips Before your appointment ● Write down your two or three most important questions. ● List or bring all your medicines and pills – including vitamins and supplements. ● Write down details of your symptoms, including when they started and what makes them better or worse. ● Ask your hospital or surgery for an interpreter or communication support if needed. ● Ask a friend or family member to come with you, if you like. During your appointment ● Don’t be afraid to ask if you don’t understand. For example, ‘Can you say that again? I still don’t understand.’ ● If you don’t understand any words, ask for them to be written down and explained. ● Write things down, or ask a family member or friend to take notes. Before you leave your appointment ● Check that: – you’ve covered everything on your list – you understand, for example ‘Can I just check I understood what you said?’ – you know what should happen next – and when. Write it down. ● Ask: – who to contact if you have any more problems or questions – about support groups and where to go for reliable information, and – for copies of letters written about you – you are entitled to see these. After your appointment, don’t forget the following ● Write down what you discussed and what happens next. Keep your notes. ● Book any tests that you can and put the dates in your diary. ● Ask: – ‘what’s happening if I’m not sent my appointment details,’ and – ‘can I have the results of any tests?’ (If you don’t get the results when you expect – ask for them.) Ask what the results mean. Download The Questions to Ask at Doctors & Hospital Appointments Factsheet To find out more about the ISG or become a member please get in touch in one of the following ways: By Phone 0800 368 9621 By Email: [email protected] Facebook: facebook.com/ichthyosissupportgroup Twitter: twitter.com/ISG_Charity
Palmoplantar Keratoderma (PPK) Factsheet Expand What is Palmoplantar keratoderma? “Palmoplantar” means palms of the hands and soles of the feet, and “keratoderma” means thickened skin. So palmoplantar keratoderma is a disorder in which the skin of the palms and soles is abnormally thick. It is rare, and it often runs in families. There are different types, but all members of the same family will have the same type. What does it look like? The palms and soles may look normal at birth, or slightly whitish. Later the affected skin becomes thickened. Sometimes it first appears when the child starts to walk, and most types become more apparent with friction and with age. The affected skin may be red and flaky, or hard and yellowish. In some types the keratoderma affects the whole surface of the palms and soles, in others it is streaky or patchy like corns (calluses). Sometimes it extends round the sides to the backs of the fingers and tops of the toes – this is called a “trangrediens” pattern. What problems does it cause? Palmoplantar keratoderma can cause difficulty with walking, because of pain in the feet. The thick skin and sweating of the feet makes them particularly susceptible to odour, and to fungal infection (athlete’s foot). The thick skin on the palms may reduce sensitivity in the finger tips, impairing manual dexterity. All these problems, together with the unusual appearance can be stressful and lead to psychological difficulties. Is palmoplantar keratoderma associated with other medical problems? The vast majority of people with palmoplantar keratoderma are otherwise completely healthy. But some rare types of palmoplantar keratoderma are associated with other skin problems such as dry skin all over (“ichthyosis”), problems with the nails, hair or teeth, deafness, or other medical problems. What causes palmoplantar keratoderma? The palmoplantar keratodermas are caused by abnormal proteins in the superficial layer of skin (epidermis). We have several genes responsible for producing these proteins. A mistake (mutation) in any one of these genes causes production of a faulty protein, and this in turn affects the structure of the skin of the palms and soles. Most cases of palmoplantar keratoderma are caused by mutations in the gene that produces an epidermal protein called keratin 9. But there are several other genes and mutations responsible for the rarer types of palmoplantar keratoderma. Where does the mutation come from? Many patients with palmoplantar keratoderma inherit the condition from their father or mother. This is called “autosomal dominant inheritance”. They in turn are likely to pass it on to half of their children. Some people with palmoplantar keratoderma cannot trace it back to their father or mother, but have an affected brother or sister, or other more distant relative. This is called “autosomal recessive inheritance”. Both their parents are “carriers” of the mutation but do not show the condition. People with autosomal recessive PPK do not pass it on to their children unless they marry another person carrying the same mutation, because the faulty gene has to come from both parents. About half of people with palmoplantar keratoderma have no family history of the condition at all. In these cases the mutation has happened during their embryonic development. We do not know why it happens, and once it has appeared it can be passed on to future generations. How is palmoplantar keratoderma treated? At present there is no cure for palmoplantar keratoderma. The skin cells are programmed to make a faulty protein and this cannot be corrected. But the symptoms can be improved by the following measures: Regular use of moisturising creams and ointments The use of simple antiseptics if odour is a problem Antifungal cream or tablets if fungal infection is present Regular chiropody to pare down the thick skin Customised insoles to relieve pressure-points on the feet In severe cases a dermatologist may prescribe the drug acitretin. This thins the affected skin. Treatment has to be closely monitored to avoid excessive thinning of the skin and various side-effects of the drug. It is a drug that must never be taken during pregnancy because it can damage the baby. Download The Palmoplantar Keratoderma Factsheet To find out more about the ISG or become a member please get in touch in one of the following ways: By Phone 0800 368 9621 By Email: [email protected] Facebook: facebook.com/ichthyosissupportgroup Twitter: twitter.com/ISG_Charity
Write to your MP about emollient prescribing issues Expand Some people with ichthyosis are experiencing problems obtaining cream, lotions and/or clothing garments on prescription from their GP. Some of these issues are as a result of guidelines issued by NHS England that are being misinterpreted by your local Clinical Commissioning Group (clinically-led statutory NHS bodies responsible for the planning and commissioning of health care services in your local area/GP). Parliamentarians have told skin patient groups that they are rarely made aware of dermatological concerns, and therefore are oblivious to any issues. In fact, some MPs have stated that they have never had any correspondence on skin issues. This is deeply concerning since MPs are elected officials that are there to serve us. Therefore, if you have any significant concern with your dermatology care, such as being wrongfully denied treatments, then you should consider writing to your MP so that they can address it. MPs can not only attempt locally and confidentially to address your individual issue by writing or speaking to the local health agencies and commissioners, but they can also seek to influence national policy by raising the broader issue within Parliament. This includes asking parliamentary questions, writing to the Department of Health and Social Care, leading a debate or meeting Ministers. A couple of MPs have agreed to lead within Parliament on a dermatology issue recently raised to them – patients struggling to access appropriate dermatological treatments. Patient groups have informed MPs that refusing access to or rationing of some dermatology treatments, particularly emollients, is occurring. The All Party Parliamentary Group on Skin (APPGS) told them this threatens the health and well-being of millions of people with inflammatory skin conditions. Importantly, this is contrary to clinical guidelines which recommend their use, and leads to significantly worse patient health outcomes. The APPGS have written a template letter which they and us would greatly appreciate you considering sending to your local MP. MPs welcome correspondence from constituents (you) and will try to respond to every constituent. We hope that your letter will lead to your local MP taking up the cause on your behalf within Parliament. If enough MPs are prepared to send questions to the Department of Health and Social Care, which shows broad support on the issue, then we will be able to encourage the MPs leading on this issue to go to the Secretary of State for Health with all our concerns and seek meaningful commissioning change. The patient voice has become extremely important and MPs do take note so please write to your local MP if you experience issues with obtaining items to manage your ichthyosis on prescription. When corresponding with MPs they require your address and full name. A simple method for writing to your MP online can be found by typing your postcode in here (opens in new tab), clicking on the MP and then filling out all the details. A letter does not need to be extensive or long. It should succinctly outline your grievances and the steps you would like the MP to take. You can find your MP's contact details via www.parliament.uk (opens in new tab). Click here (opens in Word) to download the template letter to send to your MP. To find out more about the ISG or become a member please get in touch in one of the following ways: By Phone 0800 368 9621 By Email: [email protected] Facebook: facebook.com/ichthyosissupportgroup Twitter: twitter.com/ISG_Charity
Skincare Treatments Expand Bath Oils are solubilising agents designed to disperse in water leaving a fine film over the entire body. help to hydrate the skin as well as soften it. Ointments (oil/grease) are occlusive and have a softening protective action on the skin. are useful for dry scaling areas. are not water soluble and so difficult to wash off. are not suitable for wet/weeping areas of the skin as they seal in moisture and keep the area warm, this may result in further damage to the skin. Creams (water/oil) mix easily with body fluid therefore drainage is not impaired. are water soluble and easily washed off. are soothing to dry skin. Keratolytics are preparations that contain salicylic acid, lactic acid and urea's. They can cause irritation to inflamed and/or broken skin and may be absorbed through the skin. Use under the guidance of a medical professional. Keratolytic agents are used to induce desquamation (shedding) of the horny layer (outside layer) without affecting the function of the epidermis. Notes Part of the reason the skin is dry is because it lacks moisture, therefore the aim is to hydrate the skin as much as possible. Using bath emollients will help to soften and hydrate the skin. Applying greasy emollients to the entire body after bathing will help to seal in moisture to the outer layer (stratum comeum), minimising cracks and fissures. These emollients should be applied at least 4 hourly by day. The older child and adults may require medicated shampoo's designed to loosen scale. A fine comb should be used to gently remove the scale. Never be tempted to force the scale off as this can damage the root and can aggravate hair loss. Important points to remember Creams/ointments that do not come in a pump dispenser should be decanted out on to a saucer by means of a spoon. This will reduce the risk of contamination that may result from dipping fingers into it. In hot weather it may be necessary to discontinue the ointments and change to a cream, as ointments can cause the sufferer to feel uncomfortable and it will also reduce the risk of overheating. This information is for advice only, please consult your doctor before altering any treatment. Download The Skincare Treatments Factsheet To find out more about the ISG or become a member please get in touch in one of the following ways: By Phone 0800 368 9621 By Email: [email protected] Facebook: facebook.com/ichthyosissupportgroup Twitter: twitter.com/ISG_Charity
DLA PIP Letter Expand TO WHOM IT MAY CONCERN This individual unfortunately suffers from ichthyosis, a serious and incurable disorder of the skin. In people with ichthyosis the skin does not exfoliate in the normal way, and so a thick outer layer builds up, usually affecting most if not all of the body surface. The condition is caused by faulty genes and is congenital and life-long. The skin has an appearance that has been likened to fish scales, hence the name “ichthyosis” from the Greek word for fish. People with ichthyosis suffer from extreme and constant discomfort. The skin feels dry, tight and itchy. There is constant shedding of scales, and sometimes painful cracks and even blisters occur. In hot weather the itching is much worse, while cold causes cracking. The hair may be constantly caked with thick scale. In some patients the facial skin is so tight that the eyes cannot shut completely, leading to visual impairment from exposure and drying of the cornea. The ears become blocked with dead skin and require regular evacuation. Tightness of skin around the joints can cause disabling contractures. Some types of ichthyosis are occasionally associated with problems in other organs such as impaired immunity, spasticity and learning problems. Patients with ichthyosis suffer psychologically from the disfigurement caused by this condition. Throughout their lives they are stared at and sometimes bullied or discriminated against because of their unusual appearance. The necessity for grease on the skin, and time-out for skin care causes problems at school, seriously limits employment and leisure options, and impairs social relationships. The treatment of ichthyosis is laborious and often unrewarding. Patients must apply emollient creams and ointments repeatedly throughout the day to try and stop the skin from drying out. Additional treatments include eye ointments, antiseptics and dressings. Some patients have to be treated with potentially toxic drugs requiring regular hospital visits and blood tests. Contractures require physiotherapy and splints. An additional burden is the cost of extra clothing and laundry because ointments applied to the skin inevitably rub off onto clothes, bedding and upholstery. Ichthyosis is very rare, and as a result many people including some doctors, know nothing about it. Further information on all aspects of ichthyosis is available from the Ichthyosis Support Group. Yours faithfully, Professor Celia Moss Consultant Dermatologist Birmingham Children’s Hospital Download the DLA PIP Letter To find out more about the ISG or become a member please get in touch in one of the following ways: By Phone 0800 3689621 By Email: [email protected] Facebook: facebook.com/ichthyosissupportgroup Twitter: twitter.com/ISG_Charity
Removal of Head Scales Expand Introduction You would not be alone if you have difficultly looking after your or your child’s scalp and hair. The following information is a guide to help you decide how often to do the treatments depending on the type of hair and has been approved by a Dermatology Nurse Specialist. Caucasian and Asian hair types - 3 treatments over 3 days or more if required Afro Caribbean hair - 1 treatment week over 3 weeks (you can use the treatment more often if you wish) Use your normal moisturiser or try 25% emulsifying ointment in Coconut oil, 50/50 white soft paraffin/liquid paraffin, Emulsifying ointment, to name a few. Moisturiser containing salicylic acid may help lift scales but this may sting inflamed skin and should be used with caution. Salicylic acid is sometimes contained in hair pomades developed for Afro Caribbean hair. As an alternative and if you have longer hair you may prefer to use products containing coconut oil or olive oil. Equipment Fine tooth comb Normal tooth comb 25% Emulsifying ointment in Coconut oil or usual moisturiser Hair bands Hair covering e.g. scarf, Doo Rag, (can be bought in shops selling afro Caribbean hair products), old pair of tights (with the legs tied together and the legs cut off above the knot) Method Separate hair into 4-8 bunches using the hair bands Starting at the base of the neck part hair using normal comb Apply emollient to parting Continue to part hair in small sections and apply emollient a bunch at a time until all of scalp is covered Cover hair and leave in until the next morning In the morning comb through hair using a fine tooth comb to lift the scales Wash out the emollient Repeat the above again in the evening Continue treatment until scales have gone Use treatment once or twice a week to reduce the build up of scales Download The Removal of Headscales 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 3689621 By Email: [email protected] Facebook: facebook.com/ichthyosissupportgroup Twitter: twitter.com/ISG_Charity
Ear Care in Ichthyosis Expand In all other parts of the body, the superficial skin (the sqaumous epithelium) is constantly shed, usually as a result of friction from clothing or washing. This is not possible in the ear, so the ear cleans itself! Skin cells in the ear are formed at the ear drum and then they gradually move out along the ear canal. In the outer third of the ear canal there are sebaceous glands (sweat glands) which secrete cerumen. The cerumen mixes with the skin cells and this in turn forms ear wax. Most of the ear wax eventually falls out of the ears as the skin cells move out along the ear canal. Some wax in the ear canal is good, as it keeps the delicate skin of the ear canal moist and also can trap dirt and insects from entering the ear canal. When you have ichthyosis, you have continual and widespread scaling of the skin. This can apply to the ears too. The skin scales in the ear can build up, block the ear canals and in some cases the hearing can be affected. Sometimes the skin in the ear can be managed by applying regular softening drops such as olive oil in the hope that the skin scales eventually fall out of the ear canal. If this doesn’t occur, it may be necessary for the skin scales to be removed. This needs to be done either at the G.Ps or in an Ear, Nose and Throat (ENT) department. It is difficult to say how often that the ears will need to be cleaned out, as everyone is different. I would suggest that you try a monthly appointment and then alter accordingly. If you feel that the hearing is affected, it would be advisable to have a hearing test. Download The Ear Care For Ichthyosis Factsheet To find out more about the ISG or become a member please get in touch in one of the following ways: By Phone 0800 368 9621 By Email: [email protected] Facebook: facebook.com/ichthyosissupportgroup Twitter: twitter.com/ISG_Charity
Letter to GP re Prescribing of Emollients and Prescribed Skin Care Treatments Our Medical Advisory Board have provided a letter for you to download and take to your GP regarding emollient prescribing. Expand We are aware that some patients with ichthyosis are experiencing difficulties with their GP reducing, or stopping prescriptions of emollients including bath and shower products. For some members this also extends to some silk garments. Our Medical Advisory Board have written letters that you may print off and take to your GP asking them to prescribe the items you need to care for your ichthyosis. You can access these letters via the links below. Download The Letter to GP re emollient prescribing Download The Letter to GP re emollient and silk garment prescribing If you continue to have difficulties obtaining your prescribed skin care products via your GP please contact us either by telephone on 0800 3689621 or by email [email protected] 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
True Blue Hand Story Expand This book was written by the mother of a child with ichthyosis. She wanted to raise awareness of 'difference' amongst children and adults and wrote this book to help chidren understand what it's like living with a visible difference. The book also helps adults to talk to children about visible difference and explore and explain to children. It is natural to be uncomfortable with things unkown to us. Building insight is a huge part of supporting our children's positive approach and experience with uniqueness. Download The True Blue Hand Book 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
My Story Ichthyosis Booklet Expand Download The My Story Ichthyosis Booklet Order a hardback copy 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
Childrens Questions Expand Download the Children's Questions 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
Contact Details Update Form Expand If you are already a member and need to change your address or contact information please fill out our Change of Details Form. Alternatively please Download The Contact Details Update Form 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
Prescribing issues - NHS England Some people with ichthyosis are experiencing problems obtaining cream, lotions and/or clothing garments on prescription from their GP. This letter from NHS England provides clarification for patients and GPs. Download it and give to your GP. Expand Some people with ichthyosis are experiencing problems obtaining cream, lotions and/or clothing garments on prescription from their GP. Some of these issues are as a result of guidelines issued by NHS England being misinterpreted by your local Clinical Commissioning Group (clinically-led statutory NHS bodies responsible for the planning and commissioning of health care services in your local area/GP). The British Association for Dermatologists (BAD) www.bad.org.uk and the Dermatology Council for England (DCE) www.dermatologyengland.org.uk have been working with NHS England (NHSE) www.england.nhs.uk for over a year now to publish clarification on the guidance they have issued. Whilst they are very close to finalising this guidance NHSE have in the interim issued a letter which clarifies the intent of the guidance which is intended to help patients and prescribers to access the treatments that are needed. Download the template letter You may also like to refer to a letter from our Medical Advisory Board which supports patients with ichthyosis eligibility for prescribed emollients. Download letter
Polly Buchanan - Dermatology Nurse Expand How long have you been a dermatology nurse? Do you care for adults and children? I have 38 years experience in dermatology nursing and 50 years experience in nursing overall. I moved into dermatology as a research nurse in 1996 which placed me on a clinical and academic career pathway in dermatology nursing. I am qualified to care for all ages throughout the lifespan. Why is being a dermatology nurse important to you? I have enjoyed all my nursing roles over the years. These include clinical practice, research, clinical specialism and education. It was my move to into the world of dermatology that gave me the opportunity to really make a difference for patients and the nursing profession. It is making a difference for patients who are living with a lifelong skin condition that is most important to me. I have been lucky enough to have worked in universities, profit and non profit organisations as well as Secondary and Primary Care in the NHS. What inspired you to follow this career path? Right from the start my patients inspired me, the positive feedback and the holistic care that was needed. I think for the first time in my nursing career I realised I needed to embrace a bio-psycho-social approach to care. This approach I have fostered always and gave me the opportunity to develop new and innovative roles for dermatology nurses. That career pathway took me to becoming the first Skin Cancer Nurse Specialist and then the first Consultant Nurse in Dermatology in the UK. My career also included being a Senior Lecturer, Manager for Professional Development, and Lead Nurse in Research and Development. Throughout my career and various roles I have always been drawn back to direct patient care. In my twilight years, my current role is Community Dermatology Nurse Specialist whereby I carry out dermatology clinics in GP practices in primary care What are biggest challenges you face in your role? The greatest challenges in my current role are resources, both financial and human. Waiting times to be seen in dermatology clinics remain excessively long. I would like to see community based dermatology nurses in every GP surgery. This will help, but we also need professional education and patient education programmes which enhances self care. Having recently reduced my clinical hours , I am spending more time providing education for Primary Care Nurses, District Nurses, Advanced Nurse Practitioners, Pharmacists and Patient Organisations. Within education my biggest challenges remain helping others understand the value of emollients as well as trying to understand and reduce steroid phobia. What do you enjoy most about your job? Being with the patients and their families/carers. Being able to implement a bio-psycho- social approach to care. Seeing the confidence and competence of others (patients, carers and health professionals) in understanding skin care which helps them cope with a lifelong skin condition. I really enjoy education also. Why have you chosen to get more involved with ISG and join the MAB? ISG represents everything I have mentioned above which are my passions and what has guided my career to date. Now I am semi-retired I have the time to focus and dedicate to ISG. Hopefully, with my nursing knowledge and clinical skills I can make positive contributions within the MAB. How do raise awareness and signpost people towards ISG? I raise awareness and signpost people towards ISG through my clinical practice and educational roles. This mainly includes showing patients and health professionals the ISG website first hand in my clinics. The ISG website is included in my list of resources at the end of every presentation at conferences or webinars. I am also clinical editor of the Dermatological Nursing journal and encourage articles for publication within the clinical practice/education, patient voice, product review and research sections. Outside your role what are your interests and hobbies? I have had a love of horses and dogs all my life. At one time, not that long ago, I had 2 horses, 2 dogs and two cats. Quite a handful each day. Now that my family are grown up and flown the nest I relax with my animals by being outdoors, walking and enjoying nature. I also love art and music with an eclectic taste in both. My latest new interest is growing my own vegetables in raised beds. A good book is perfect when I’m on holiday and is a must for me.
X-linked Ichthyosis Expand What is X-linked ichthyosis (XLI)? ‘Ichthyosis’ means dry, scaly skin, which may occur as a result of an inherited genetic condition. X-linked ichthyosis (XLI) is the second most common form of ichthyosis; the most common type of dry skin is called ichthyosis vulgaris. XLI affects approximately 1 in 6000 boys/men. It only usually occurs in males because it is caused by a genetic change on the X chromosome (see below “how is the condition inherited”). What are the signs? The severity of XLI varies. Babies with XLI may show no problem with their skin at birth but they may develop areas of scaling within the first few days, weeks or months of life. Most patients develop dry scaly skin by the age of 1 year and have the condition for the whole of their life. The scales in XLI tend to be brownish in colour. They are up to a few millimetres in size and may occur all over a patient’s body, particularly on the trunk, on skin at the back of the neck and on the outer parts of the arms and legs. XLI patients may find that the skin scaling is worse in winter than in summer because cold and dry weather tends to aggravate the condition. Sometimes XLI is associated with eye changes (corneal opacities) or testicular problems (undescended testicles) or rarely a delay in intellectual development. Ladies who are carriers of XLI do not have skin problems but they may have a long or difficult labour during childbirth. How is the condition inherited? XLI is an inherited (i.e. genetic) disorder so it runs in families. As the name suggests, XLI is linked to the X chromosome (sex chromosome). It is a recessive condition. This means that males may develop the disease but females are carriers of the disease. Men only have one X chromosome, so a baby boy with only one copy of the faulty gene will develop XLI. Women have two X chromosomes, so if a baby girl has one faulty copy of the XLI gene she is a carrier, but she is protected from developing the condition because her other X chromosome is normal. A mother with one copy of the faulty gene is a carrier of XLI and she can give birth to an affected son. Some (approximately 1 in 2) of her female babies will also be carriers. If the father has XLI, he cannot pass this on to his son, but his daughters will be carriers of XLI. Families affected by XLI may wish to discuss these chances of passing on the condition with their doctor or a specialist before expanding their family. What genes are affected? XLI is caused by changes in the STS gene which codes for an enzyme called steroid sulphatase. XLI patients have a lower level of STS in cells throughout their body. This is particularly important in the skin, where STS regulates the chemical changes that allow dead skin to be shed from the body. When this enzyme is lacking, the dead skin cells build up as brown scales. Low STS in the placenta is thought to cause long, difficult labour in some ladies who carry an STS mutation. How is the condition diagnosed? A doctor, for example a skin specialist doctor (dermatologist), will look for the characteristic skin changes seen in XLI. Blood tests may be used to confirm the diagnosis. A blood test can be taken to check the level of steroid sulphatase (STS). The STS level is very low or completely absent in a boy or man who has XLI. Ladies carrying XLI also have lower STS levels than normal. A blood test can also be taken for genetic analysis at a national reference laboratory to check for changes in the STS gene which lead to XLI. Prenatal diagnosis of XLI is now available so that changes in STS can be detected very early in pregnancy. However these procedures are not routinely provided, so families affected by XLI are advised to discuss any concerns with their doctor. Why is XLI sometimes misdiagnosed? It is quite common for newborn babies with XLI to have healthy-looking skin at birth, making immediate diagnosis of XLI difficult. Mild scaling does generally appear within the first few days following birth, but these signs may fade within a few weeks and may not appear again as true ichthyosis until later in life. Dry skin can also be a symptom of many other skin conditions, such as the more common ichthyosis vulgaris, or eczema or, rarely, an immune deficiency disease. Looking after patients with XLI As yet, there is no cure for XLI but continual lifelong care with moisturisers and other creams/ointments should help keep the skin as healthy as possible. Success of the treatments will depend on individuals and what works for one person may not work for another. Patients will need to consider different options to find the best for them. Moisturising creams and skin treatment It is very important that the skin is kept moisturised and that suitable emollients are applied frequently throughout the day. More greasy treatments, such as ointments, may be needed in the winter as this is when the skin tends to be at its driest. Creams or ointments containing lactic acid or urea may help to dissolve the visible scales on the skin of patients with XLI. However, these products can cause a baby’s or child’s skin to sting and so should be used with caution. The use of bath oils is important as bathing does not then cause drying or irritation of the skin and these are suitable for long-term use. Soaking in the bath for a period of time also tends to be more beneficial than a shower. In most cases, XLI is not considered severe enough to prescribe retinoid tablets as these treatments can have side effects. It is important to seek advice from a specialist dermatologist before using any new treatment for XLI to check that it is safe. More specific information on caring for the skin in XLI and other forms of ichthyosis can be found on our website. Treatment of associated conditions About half of males with XLI and some females who carry the condition develop cloudy spots in their eyes called “corneal opacities.” These are usually identified by an ophthalmologist (eye specialist) but they do not affect eyesight. STS plays an important role in the placenta, so some female carriers of XLI experience difficulties in labour, such as a slowed birth. Carriers of the condition should let their obstetrician know beforehand so they can be prepared for the possibility of a prolonged labour. In rare cases, the genetic change that results in XLI may affect other genes nearby, if a large section of DNA is deleted. Delayed growth, delayed intellectual development and delayed puberty have all been associated during school years with XLI. If you have concerns about these conditions with XLI, the patient should be assessed by a specialist doctor. Personal care Although scaling in XLI is usually less severe than some forms of ichthyosis, the brown appearance of these areas can cause a individual’s skin to look “unwashed”. This may lead to teasing or bullying by other children during school years if they do not understand the condition and can make it hard for the patient to build self-confidence. Consequently, extra support may be needed and general practitioners need to understand the psychological impact of the condition and provide adequate support to the family. This may require the involvement of other healthcare professionals. Further help There are a number of online forums about XLI where individuals can share their experiences and detail their own treatment recommendations. Not everything will work for everyone but they are a good place both to receive and offer support.
Ichthyosis Overview 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’. 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. 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’. Living with ichthyosisThe 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. You can preview and download the Overview of Ichthyosis leaflet below Download the latest Brochure
Dr Fiona Browne Expand How long have you been a dermatologist and do you care for adults and children? I started my dermatology training in 2006 and have been a consultant since 2011. I initially worked with both adults in children but since moving to Dublin in 2015 I just look after children. What inspired you to follow this career path? I started my medical training wanting to do palliative care but during a rotation in dermatology I soon changed my mind. I quickly realised how rewarding it is to treat skin disease and what a huge difference you can make to people’s lives. I was also very lucky to have worked with great teachers and really inspiring mentors along the way. What are the biggest challenges you face in your role? Thankfully in dermatology we can treat most conditions successfully and year on year there are further advances made. Unfortunately though, there are still some conditions that we have no cure or treatment for and I find this very challenging. What do you enjoy most about your job? Why did you become involved with the ISG? I became involved with the ISG after meeting Mandy and Maggie at the Birmingham Paediatric Dermatology course. They came along to give a first-hand account to us, as trainees, of how living with ichthyosis was for them. Since then the ISG has been a great support to patients and families, not just in the UK but in Ireland also. How do you raise awareness and signpost people towards the ISG? I am lucky to work with a large multidisciplinary team and we do our best to make sure we work holistically from the first encounter with a family so we signpost to the ISG and the support they offer. Why is being a dermatologist and researcher important to you? Being a dermatologist brings me great satisfaction. It is never dull and we are constantly making progress in terms of treatments and understanding skin conditions. Doing research and participating in clinical trials is fundamental to that progress. Outside of your role what are your interests and hobbies? Family and friends are the most important things to me. We live in a very beautiful part of the world so being outdoors with them, walking on the beach or in the mountains is all I need to switch off.
Mr Raman Malhotra - Consultant Ophthalmic and Oculoplastic Surgeon Expand How long have you been an ophthalmologist and surgeon? I completed my specialist surgical training in 2003 and was appointed as a consultant that year. November 2021 will mark 18 years as a consultant. What inspired you to follow this career path? I was initially inspired by the delicate and intricate nature of eye surgery and the positive nature of my mentors in this speciality. I have since been inspired by the outcomes and impact of this to people's lives and more recently by seeing the progress made by trainees who have worked with me and are now successful surgeons in their own right. To have been part of this process is not only gratifying and rewarding but also, inspirational. What are the biggest challenges you face in your role? Fitting everything in the waking day. I have tried to stop emailing at night! What do you enjoy most about your job? The people I interact with throughout the week, comprising of my team and staff colleagues as well as the sizeable number of patients and relatives I meet each week. Why did you become involved with the ISG? This is a challenging condition and one that most of us are not exposed to in our training. I was involved in using technology that we use in other aspects of my speciality to try and correct eyelid ectropion and retraction in ichthyosis. This sparked my interest. We were then fortunate to be involved in providing ophthalmic input to multi-speciality project to help devise European Guidelines for Ichthyosis Management. This, unexpectedly turned out to be a huge amount of work but something that changed my entire outlook on this condition. I learned so much in the course of this project. One thing leads to another... How do you raise awareness and signpost people towards the ISG? The ISG website Why is being an ophthalmologist and surgeon important to you? It combines my interest in science, surgery, innovation, continued learning and the care and contribution to improving people's quality of life. Also, couldn't quite cut a career as a musician! Outside of your role what are your interests and hobbies? Music, tennis, travel...not much of that lately!
Dr Richard Goodwin Expand I’ve been in post since 2003, as a consultant dermatologist here in Newport, South Wales. From the beginning I was offered the chance to take on the paediatric clinic, where I have been ably supported by Heulwen Wyatt, my paediatric nurse. As we further developed the children’s dermatology service together, I looked for more external experience in paediatric dermatology: it was attending the Birmingham Children’s Hospital where I met Professor Celia Moss, my single most inspiring and supportive role model. She in turn introduced me to the Ichthyosis Support Group (and Mandy Aldwin-Easton, ISG Trustee). There are lots of challenges, not least an ever-increasing demand for dermatology services. Finding practical and innovative ways to try to address this remains an on-going interest for all of us in the field. I enjoy meeting and speaking with patients more than anything else. The questions they pose mean I am never allowed to get bored or complacent. I also enjoy trying to pass on my knowledge to my colleagues and trainees, through teaching and asking more questions. I am not afraid to say when I don’t know the answer to questions from patients, parents and other colleagues. It is these conversations that stimulate future research. I enjoy being an advocate for patient support groups and the ISG remains a wonderful role model that I use as my regular example of where we need each other’s support. Teaching my trainees and peers about ichthyosis always includes the ISG. Being a dermatologist has always been a great privilege, using my knowledge and experience gained from others to help guide and advise patients in making the best decisions about their care. I never get tired of this. When I am not working, you will find me in the garden, walking the dog or standing in a river wondering where the fish have gone.
Paul Whitehouse Chairman Expand Prior to the birth of my second daughter on the 5th of November 2004, I had never heard of the skin condition known as ichthyosis. Having already been blessed with a beautiful daughter Lydia Mae some 3 years earlier I never imagined her baby sister would be afflicted with an extremely rare congenital condition with a name I could not pronounce. Annabelle was born a collodion baby, another medical term I had never heard of. There were so many questions and not many people knew the answers. The family were faced with an array of emotions and worries and we needed answers. We were extremely fortunate to be referred to Professor Celia Moss at Birmingham Children’s Hospital who took us under her wing and provided us with a diagnosis of Annabelle’s condition, she has CIE. Professor Moss also recommended that we contact the Ichthyosis Support Group (she is an active member of the ISG’s Medical Advisory Board). We made contact with the ISG and ultimately became members. It was a comfort to us as a family that there was an organisation out there that we could turn to for support. We attended the 10 year anniversary of the ISG in 2007 and it was at that event that it was suggested to me that I might wish to become more involved with the group. My first reaction was that I have more than enough in my life to contend with without taking on more – but it got me thinking. After a little more cajoling I accepted an invitation to attend a meeting of the group and eventually made the decision to become actively involved. I accepted the offer to become Chairman of the group on the 25th January 2008. If you were to ask me why I decided to become a trustee my answer would be that quite simply I want to help to make a difference. I am reminded everyday when I look at my beautiful daughter Annabelle that I want to do all I can to make things better for her and in so doing all the families affected by ichthyosis and of course all those families who have yet to face this distressing condition. I am privileged to be part of a special group of people who sit on the ISG committee and who give of themselves their time and commitment (for no financial reward) to running the ISG. Without their resolve and determination the ISG would not exist and that would be an enormous loss. As you may be aware the ISG has no income other than that it generates for itself through members fundraising activities, donations and by applying for grants. We need to constantly generate funds to pay for the ‘infrastructure’ that constitutes the ISG. We often refer to fundraising opportunities and as an example if every one of our 1400 member families were to raise just £100 each we would generate £140,000! Between us all we can make a difference, we can support research initiatives into the condition, we can raise awareness of the condition within the medical profession, support our members in all sorts of activities, and ultimately make life better for families and individuals who live with ichthyosis on a daily basis. Thank you for reading this, please do get involved, do as much or as little as you can – every little helps. Remember we also have our Fundraising Guide which will give you ideas on how to go about raising funds, once you get started there will be no stopping you!
Maggie Aldwin MBE Co-Founder and Trustee Expand My daughter Mandy (please refer to her profile) was born in 1976 in the Royal Berkshire Hospital. She was 5 and half weeks early and very poorly, and they whisked her off to intensive care without me even having a cuddle. My husband was unable to be with me at her birth, and I remember being asked if I was related to him – apparently she had a rare genetic skin condition, which they later advised me was ichthyosis. Everyone’s heard of eczema and psoriasis – but ichthyosis…? There was no internet, or access to much information back then, and there was still very little when 20 years later Prof John Harper invited ichthyosis families to a meeting at Great Ormond Street Hospital (GOSH) to discuss the possibility of setting up a support group. He had been asked by Pamelia Catlyn, a parent of a young boy with ichthyosis about being able to exchange information with other families. Mandy and I attended that first meeting, and in 1997 together with Pamelia we helped to found the Ichthyosis Support Group (ISG). We were just 6 families. Duly elected Treasurer, I opened the ISG’s first bank account with a £50 cheque donated by Contact A Family www.cafamily.org.uk who had also provided us with invaluable advice and guidance on how to get the group started. I continued in the role until 2009, when my close friend Rex Codling (an experienced charity treasurer) took over the role for 4 years. Rex guided us through incorporation, and employing our first member of staff, however I was re-elected as the ISG’s Treasurer when Rex stood down early in 2013. In addition to ‘keeping the books’, I initiated the first ISG conference, which was held at GOSH in 1999. These annual events have developed and grown over the years and our Medical Advisory Board has always supported us by providing talks and chairing workshops for our families. The event continues to be an eagerly awaited fixture on the ISG calendar attracting up to 70 families (300 individuals) each year. The ISG has always been keen to develop relationships with other like-minded associations, and in 2010 we joined with other European counties to form the European Network for Ichthyosis (eni) and I was delighted to accept the position of President. This network has resulted in an invaluable exchange of information across the 12 European countries and in 2013 a first survey of Lamellar patients in Europe (and the US) was conducted. In 2015 Mandy Aldwin succeeded me as President of eni. As Treasurer of the ISG I should emphasise that the charity is not government funded – it is reliant on fundraising and donations. Apart from the money raised, any fundraising demonstrates to would-be grant makers that we are not a charity that expects to be funded by grants, but that we and our supporters make every effort to raise funds on our own account. Please consider pledging a regular donation through our website or request a donation form by simply ringing our helpline 0845 6029202, and help us to improve the lives of all individuals and families affected by ichthyosis. In the 2015 New Year's Honours Maggie's work for those affected by ichthyosis and genetic skin diseases was recognised when she was awarded with an MBE by her Majesty the Queen.
Sue Corbett Secretary Expand Sue stepped down as a Trustee in December 2022 after 13 years of commitment to the Ichthyosis Support Group (ISG) and its members. We would like to sincerely thank Sue for her support dedication and enthusiasm during her time with the ISG and wish her all best wishes for the future. I joined the ISG in 2009. My husband (Andy) and I were out lunching with Maggie and her husband (Mike) in late spring that year. How do I know Maggie? We became firm friends while attending Langley Grammar School and remained so after she married Mike and moved away (I was lucky enough to be a bridesmaid to them). During the meal I asked Maggie about their daughter Mandy and also Maggie’s passion - the ISG. Maggie mentioned that the small charity was ticking along, always struggling with money and now also struggling with the lack of ‘somebody to take the minutes during Trustee meetings’. We parted after lunch, but Maggie’s frustration at needing more support stayed with me. The previous year I had been rather poorly for a few months and Maggie was such a good friend at that time – visiting me in hospital at a time when many in my family couldn’t, and lending me her precious DVDs to watch while I tried to avoid boredom in isolation. So, now fully recovered and finding my way back into life, I decided that it was ‘time to give something back’. I was quite used to taking minutes of meetings as I had previously acted as secretary to our local Scout Group. I offered my help to Maggie and, after she had asked the other Trustees for their approval, I attended my first Trustee meeting in August. At that meeting I discovered a small team of people who were absolutely committed to helping sufferers of ichthyosis and their families. I was hooked! How could I not be? All the people in that meeting either suffered the condition themselves, or were the parent of a child born with the condition. In time I heard their stories – all different - but all stories carrying the same message, that there is not enough awareness of ichthyosis. Every story told me that, at the birth of their child, nobody present recognized the condition and a very scary period in their lives began. All the stories are very moving. So, years on, I still take the minutes – and Andy joins me attending all the Fun Days and Family Conferences where we welcome everyone as we man the reception process. We both love meeting up with, what have become, familiar faces from previous functions and greeting new attendees who quickly find themselves feeling welcome amongst other members of the ichthy family. Andy and I still believe that there is not enough awareness of the condition and will talk about it with friends and family at every given opportunity and help to promote the mission of the ISG whenever possible.
Professor Celia Moss OBE - Honorary Expand How long have you been a dermatologist and researcher? I became interested in research as an undergraduate at Oxford although once I started medical training in London I was more focussed on looking after patients. I qualified in medicine in 1975 and started dermatology training in 1980, in Newcastle-upon-Tyne. That department was very research- orientated, but I remained first and foremost a clinical dermatologist. I was appointed consultant dermatologist in Birmingham in 1993 and retired officially in 2011 but continued part-time until 2021. I have never been a laboratory researcher but I provide clinical input for scientific studies and am still conducting a study of the incidence of collodion and harlequin babies. What inspired you to follow this career path? Dermatology always appealed because it is a very “hands on” specialty, relying on clinical skills rather than Xrays, scans or blood tests. As a medical student I spent two elective periods working with leprosy, in Malawi and Myanmar, which consolidated my interest in skin disease. Of course there were also personal and domestic factors influencing career choices at various stages. Compared with surgery or mainstream medical specialties like cardiology, dermatology work is mainly outpatient-based and non-emergency, so it’s compatible with looking after a family. What are the biggest challenges you face in your role? Finding enough hours in the day! What do you enjoy most about your job? Almost everything! I enjoy interacting with people, whether it be patients, families, colleagues or even managers: interactions with “the management” can be frustrating but I have learnt that time and persistence usually succeed in the end. I have always been interested in genetic disease and it has been wonderful to have lived and worked through a period of dramatic scientific advance: families I puzzled over 30 years ago are finally getting answers. And it is a great privilege to have worked for the NHS for 46 years. Why did you become involved with the ISG? I soon learnt that doctors can’t actually do very much to improve the lives of people with ichthyosis, while families get lots of support and useful tips from each other. So, I hosted the 2nd ISG Conference in 2001 at Birmingham Children’s Hospital, and the rest is history! Of the many patient support groups I have worked with I have enjoyed ISG the most – for the people, their commitment and their willingness to take on challenges and get involved in national and international initiatives. How do you raise awareness and signpost people towards the ISG? Whenever I meet a new patient with ichthyosis I always give them ISG contact information and I have encouraged colleagues to join the medical advisory board. When ichthyosis is discussed at regional and national meetings, I remind fellow health professionals about the ISG. Why is being a dermatologist and researcher important to you? I’m now retired but I want to go on using the knowledge and skills I have built up over the years. I have an honorary contract with Birmingham Children’s Hospital and contribute to teaching, case discussions and research. As a member of the editorial advisory boards of several dermatology journals I give advice on papers submitted for publication and write plain English summaries of complex research studies. I want to go on contributing and I’m keen to keep the brain cells active! Outside of your role what are your interests and hobbies? Before the pandemic, my husband (also a retired doctor) and I enjoyed travelling and supporting colleagues in under-resourced countries, particularly India. We have 3 grown up children and a grandchild, all living fairly near, so family activities are very important. During lockdown I have enjoyed gardening and sewing and I find zoom meetings ideal for knitting!
Dr Gabriela Petrof Expand How long have you been a dermatologist? I have been working in Dermatology since 2010 and as a Consultant Dermatologist since 2019. What inspired you to follow this career path? I was inspired to study medicine by my mother and specifically Dermatology as the skin offers a great insight into human health. I find the spectrum of skin diseases fascinating and I find rare and genetic skin diseases of particular interest as I can build a strong and lasting connection with the individual affected and their family. Why is being a dermatologist and researcher important to you? Research in rare skin diseases is the only pathway for these individuals to get access to meaningful treatments. I have completed a PhD studying cell therapies for adults and children with dystrophic epidermolysis bullosa. Conducting clinical research is an important part of my daily job. What are the biggest challenges you face in your role? Getting treatments to patients as soon as possible. What do you enjoy most about your job? My conversations with families. Why did you become involved with the ISG? I look after a lot of individuals with ichthyoses and I welcomed being part of the support group which tries to educate individuals and support their journey through getting a diagnosis and treatment. How do you raise awareness and signpost people towards the ISG? I encourage them to join the support group and engage in family events. Also to stay updated about research projects. Outside of your role what are your interests and hobbies? I spend time with my family. I love travelling, reading and walking.