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Epidermolysis bullosa

  • Epidermolysis bullosa (epi-dermo-lie-sis bull-owe-sa, also called EB) is a group of rare genetic diseases that cause very fragile skin. The skin is so fragile that it can be injured very easily (even from heat, rubbing or a bump) and result in blisters and wounds.

    Children with EB are sometimes referred to as butterfly children because their skin is as fragile as a butterfly's wings.

    Human skin has two main layers, the epidermis (the topmost layer) and the dermis (the inner layer). These layers are normally held together with proteins that act like a glue. The genetic changes in EB cause these proteins to be reduced or missing, and this results in easy blistering and skin breakdown with minor injury.

    EB is rare, and it is estimated that less than one in 20,000 children has some form of EB. Often there is a family history of the condition.

    Currently, there is no cure for EB. Many types are well controlled and many patients with EB lead normal lives. Unfortunately, there are several rare types that can cause significant pain and more severe disease.

    EB is not contagious, it is a genetic (inherited) skin condition. It cannot be caught by coming into contact with people who have it. 

    Types of EB

    There are many different forms of EB, and it ranges from a mild to a severe disease. The four main types of classical EB are:

    • EB simplex: This is the most common form of EB, where the skin splits and forms blisters within the very top layer of the skin. There are various types of EB simplex that can all look very different.
    • Junctional  EB:  This is a rare type of EB where the blisters form in between the topmost layer, and the inner layer of the skin. This means the damage is deeper than in EB simplex. Some forms of junctional EB are more severe than others.
    • Dystrophic EB: In this type of EB, the skin fragility and blisters occur in the inner layer of the skin. The term 'dystrophic' refers to the scarring that can occur following healing of the blisters and erosions. Some forms of dystrophic EB are more severe than others.
    • Kindler syndrome: This is a rare form of EB where blistering can occur in multiple levels in the skin. In Kindler EB, the skin is sensitive to the sun and widespread freckling and sun-damage changes, called poikiloderma, can develop in the skin over time.

    Signs and symptoms of EB

    EB is normally present at birth or the first few weeks of life. The key feature of all types of EB is that the skin is fragile, leading to a tendency to develop blisters and wounds in the skin after mild trauma (e.g. injuries from bumps or friction).

    Some children will have a few blisters while others will have a lot. The blisters are most often found on the feet and hands, but can also form in other parts of the body, including the face, nappy area and mouth.

    The wounds heal slowly and can become infected quite easily. If your child has EB, they may have some of these other issues:

    • The mouth, gums, throat, oesophagus (tube connecting the throat and stomach), stomach, bladder and anus can also develop blisters. Blisters in these areas can make it difficult to eat and lead to nutritional problems, poor growth and constipation.
    • Nails, hair and eyes can also be affected in the more severe types of EB.
    • The blistering and sores can be extremely painful. In some forms of EB, the wounds leave scars.

    In general, the deeper the blistering, the worse the disease. However, this is not always the case. In some forms of dystrophic EB, there is a higher chance of developing skin cancers from the teenage years and beyond, usually in areas of repeated skin injury.

    If your child shows any signs of EB, see a GP. You will be referred to a dermatologist for diagnosis.

    Treatment for EB

    Your dermatologist will be able to specifically advise you on the type of EB your child has, organise tests, and create an individual management plan for your child.

    Depending on the type of EB and which parts of the body are affected, various health professionals may be involved in caring for your child. These may include dermatologists, specialist EB nurses, paediatricians, gastroenterologists, geneticists, dentists, pain specialists, endocrinologists, plastic surgeons, podiatrists, dieticians, psychologists, occupational therapists, physiotherapists, and social workers.

    EB management aims to:

    • prevent blistering as much as possible by reducing friction, and protecting skin from trauma with appropriate footwear and clothing
    • treat wounds as soon as possible by bursting blisters and applying appropriate solutions, creams and dressings
    • reduce possible infections with topical treatments and regular bleach baths
    • treat infections appropriately with topical or oral antibiotics
    • maintain good nutrition with a balanced diet 
    • alleviate pain and discomfort with symptom care and appropriate pain medications 

    Care at home

    Preventing blisters

    • Dress your child in soft clothing to avoid rubbing blisters.
    • Clothes may need to be turned inside out (as the seams may rub on their skin) or tags removed.
    • Ensure shoes are fitted correctly as shoes may rub causing wounds to feet. Wear socks that fit well or wear them inside out to stop seams from rubbing.
    • Try not to let your child get too hot. Summer time is often worse for children with EB due to increased sweating exacerbating friction and creating wounds. An air conditioner is recommended.
    • Use sheepskin or foam padding on surfaces that may cause friction (e.g. chairs, beds, infant car seats).

    Wound care

    • Blisters should be popped with a sterile needle as this will make your child feel more comfortable and will stop the blisters from getting bigger. Once popped, the roof of the blister should be left on the skin to improve healing. Allow blisters to drain and then put on an appropriate dressing to promote healing. If you are not confident performing this or do not have a sterile needle, your GP, dermatologist or EB nurse can assist you.
    • Blisters should be popped with a sterile needle, otherwise they will keep expanding and cause a larger wound and increased pain.
    • Your child may be eligible to access dressings via the Government-funded National Epidermolysis Bullosa Dressings Scheme (NEBDS). Ask you EB nurse for details.

    Activities

    • Like all children, children with EB are bound to injure themselves in everyday activities. Even though these injuries can cause blisters for your child, it is important to allow them to feel normal, play and have fun.

    Diet

    • There is no specific diet required for a child with EB. However, if your child's EB affects their gut or they have poor growth, they may need to supplement their diet with nutrients such as iron. A dietician may be needed for more specific guidance on an adequate diet.
    • In some cases, soft foods may be needed to help stop damage to the lining of the mouth, throat and stomach, and to assist with swallowing.
    • Adequate intake of fluids and fibre is recommended to help prevent constipation.

    When to see a doctor

    Contact your specialist doctor or EB nurse if your child:

    • is not gaining weight as they should be for their age
    • is having difficulty swallowing
    • has wounds that are not healing, or that show signs of infection (weeping, crusts, increased pain and smell)

    Key points to remember

    • Children with EB have very fragile skin that can be injured easily and form blisters.
    • If the blisters become infected, they can cause serious problems.
    • The main treatment for EB is good wound care and nutrition. This assists wound healing and helps to prevent infection.
    • There are several different types of EB, with some more severe than others.
    • There is no cure for EB, but many types can be well controlled.

    For more information

    Please note: These websites contain information that may not be relevant to your child, depending on the type of EB they have. Many websites are aimed at people with the most severe types of EB, and may be upsetting to some people.

    Common questions our doctors are asked

    Is EB contagious? 

    EB is not contagious as it is not caused by an infection. EB is a genetic condition, and it cannot be caught by coming into contact with people who have it. 

    If I have a child with EB how likely is it that any future children will also have EB? 

    This depends on the type of EB that your child has been diagnosed with. Genetic testing for your child, you and your partner may be required to accurately answer this question. Genetic counselling and prenatal testing may be available, and are worth considering if you are planning on having more children. 

    Is a cure for EB far off? 

    There is significant research being conducted worldwide for EB, including gene therapy and cell-based therapy, as well as wound healing creams. These therapies aim to improve quality of life for people with EB. Discuss the latest treatment options, including the potential for inclusion in clinical trials, with your child's dermatologist or EB nurse.

    Developed by The Royal Children's Hospital Dermatology department. We acknowledge the input of RCH consumers and carers.

    Reviewed August 2020. 

    Kids Health Info is supported by The Royal Children’s Hospital Foundation. To donate, visit www.rchfoundation.org.au.

Disclaimer  

This information is intended to support, not replace, discussion with your doctor or healthcare professionals. The authors of these consumer health information handouts have made a considerable effort to ensure the information is accurate, up to date and easy to understand. The Royal Children's Hospital Melbourne accepts no responsibility for any inaccuracies, information perceived as misleading, or the success of any treatment regimen detailed in these handouts. Information contained in the handouts is updated regularly and therefore you should always check you are referring to the most recent version of the handout. The onus is on you, the user, to ensure that you have downloaded the most up-to-date version of a consumer health information handout.