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Epidermolysis bullosa

Epidermolysis bullosa (EB) is the name given to a few genetic diseases causing fragile skin. The problem happens when one of the important skin structures is decreased or totally missing. The loss of this skin 'glue' makes the skin weak.

EB is a rare disease, but some types of it are more common than others. It is estimated that less than 1 in 1,000,000 children has some form of EB. Often there is a family history of the condition, but this is not always the case.

At present 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 death in infancy, or early adulthood.

Types of EB

There are many different names for the different types of EB. The three main types are based on which level of skin is affected. The 3 types are called:

  1. 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 which can all look different.

  1. Junctional EB:

The level of skin involved here is the middle layer of the skin. An abnormality here means that the blisters and erosions are deeper than in EB Simplex. Some different forms of this type are more severe than others.

  1. 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. The appearance also changes depending the on type.

Signs and symptoms

  • The key feature of all types of EB is that the skin is fragile, leading to a tendency to develop BLISTERS and EROSIONS in the skin after mild trauma.
  • Sometimes the mucosal membranes (eg. mouth, gums, throat and stomach etc.) are also affected.
  • Generally, the deeper the blistering, the worse the disease, but this is not always the case.
  • The blistering and sores can be painful. In many cases, they heal leaving scars.
  • The wounds heal slowly and can get infected.
  • Teeth, nails, hair and eyes can also be involved in the more severe types.
  • Nutrition problems and poor growth can also occur, particularly where the stomach is involved.
  • In dystrophic EB, there is a higher chance of developing skin cancers in areas of repeated injury.

Treatment

  • Your doctors will be able to specifically advise you on the type of EB, and organise the tests and treatment needed for the care of your child.
  • Depending on the type of EB, various health professionals may be involved in caring for your child. These may include dermatologists, gastroenterologists, geneticists, dentists, dieticians/nutritionists, occupational therapists, specialist nurses, social workers and plastic surgeons.
  • The main treatment for EB is good wound care. This helps healing and helps to prevent infection.   Your chil's doctor will be able to advise you on the appropriate wound care for your child.
  • Hopefully in the future a cure such as gene therapy may be possible.

Care at home

Activities

  • Children with EB are bound to injure themselves in everyday activities, however, it is important to allow them to feel normal, play, and have fun.
  • Protective clothing such as kneepads, helmets etc should be worn when doing any risky activities eg bike riding, roller−blading.

Wound care

  • Blisters should be popped with a sterile needle as this makes it more comfortable and allows better healing. Once popped, the roof of the blister should be left on to improve healing.
  • There are many types of dressings available for use on wounds, and your doctor can advise you about these.

Diet

  • There is no specific diet needed, however if the condition affects the gut or there is poor growth, the diet may need to be supplemented with nutrients such as iron.
  • Soft foods may be needed to help stop damage to the lining of the gullet and stomach.

Follow-up

Contact your doctor if your child:

  • Is not gaining weight as appropriate for their age.
  • Is having difficulty swallowing.
  • Has wounds that are not healing, or show signs of infection.

Key points to remember

  • EB is a genetic condition, which results in the loss of one of several structures the skin, which are important for the skin's strength.
  • It is hereditary, but it is not 'contagious'.
  • It is not related to diet.
  • At the moment there is no known cure.  This may be possible in the future.

 More information

Individual information

 

Developed in consultation with the RCH Dermatology Dept.  First published 2004.  Reviewed March 2008.

 

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