Kids Health Info

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. Because the skin is so fragile, 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 layers, which are normally held together with a protein that acts like a glue. EB happens when these proteins are missing or reduced, which results in damage and causes skin breakdown.

    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 disease.

    Types of EB

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

    • EB simplex: This is the most common form of EB. It is also the mildest form. The skin splits, forming blisters in the very top layers of the skin. There are various types of EB simplex that can all look different.
    • Junctional  EB: The level of skin involved in junctional EB is the middle 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 is fragile in the deepest layer. The term 'dystrophic' refers to the scarring that can occur following healing of the blisters and erosions. 
    • Kindler syndrome: This is a rare form of EB where blistering occurs in infancy but generally reduces over time. In early childhood the skin can be sensitive to the sun. 

    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 and bladder can also develop blisters.  Blisters in these areas can make it difficult to eat and lead to nutritional problems or poor growth.
    • 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.

    Generally, the deeper the blistering, the worse the disease, but this is not always the case. In dystrophic EB, there is a higher chance of developing skin cancers in teenage years in areas of repeated 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, and 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, gastroenterologists, geneticists, dentists, podiatrists, dietitians, occupational therapists, social workers and plastic surgeons.

    EB management aims to:

    • prevent blistering as much as possible, e.g. by reducing friction and protecting from trauma with appropriate footwear and clothing
    • treat wounds as soon as possible with 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.

    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.
    • Try not to let your child get too hot.
    • 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 allow for better healing. 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 or dermatologist can assist you.
    • Blisters should be popped with a sterile needle, otherwise they will keep expanding and cause a larger wound and increased pain.

    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 needed. 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. You will need to see a dietician for more information on 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 swallowing.

    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 can't be caught by coming into contact with people who have it. 

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

    This depends on whether both parents have the gene for EB or if only one parent does. 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 done into EB, including gene therapy and cell-based therapy, as well as wound healing creams. These therapies aim to improve quality of life of people with EB. Discuss the latest treatment options 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 June 2018.

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


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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.