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Epidermolysis bullosa

Epidermolysis bullosa (EB) is a group of rare inherited conditions making skin very fragile that are characterised by blisters forming after friction or trauma.

The condition is caused by faulty genes that may be inherited from parents, though in some cases neither parent carries the genes.

The NHS says around 5,000 people in the UK are living with epidermolysis bullosa.

There are around 27 types of the condition, but it is usually described as being in 3 main categories:

Epidermolysis bullosa simplex (EBS): The most common type (around 70% of cases) with milder blistering affecting upper skin layers.

Dystrophic epidermolysis bullosa (DEB): Accounting for around 25% of cases with blistering below the basement membrane zone of the skin.

Junctional epidermolysis bullosa (JEB): The most severe type, accounting for around 5% of diagnoses, with blistering of the basement membrane where the epidermis meets the lower layer of the skin (dermis).

There is another form of the condition that is not inherited but is caused by problems with the body's immune system, called epidermolysis bullosa acquisita (EBA).

As well as skin blisters, EB can cause mouth blisters, skin scarring and thicker skin and nails.

Because epidermolysis bullosa has such distinctive symptoms, it is usually diagnosed soon after birth. It can be confirmed with skin biopsy samples taken for laboratory testing and DNA tests.

If parents are known to carry the gene, tests can be done on the growing baby for the condition from around week 11 of pregnancy. Counselling may be offered depending on the test results. Some parents will choose not to continue with the pregnancy if the test is positive.

Although there is no cure for EB yet, the British Skin Foundation says there has been "exciting and rapid progress in the understanding of EB" over the past 20 years.

Treatment and care can help improve quality of life and avoid skin damage and complications.

A referral may be made to a specialist NHS EB centre. An EB care team will include the GP, dermatologists, dietitians, physiotherapists, specialist nurses and play experts.

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WebMD Medical Reference

Medically Reviewed by Dr Rob Hicks on January 15, 2016

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