Epidermolysis bullosa

Epidermolysis Bullosa

Epidermolysis Bullosa (EB) is a group of rare genetic conditions which affects the skin and the lining tissues of internal organs. Blisters are produced from even minor damage especially on the hands, feet, elbows, knees, shoulders and buttocks. Nails are likely to be shed and replaced by ones that are deformed and irregular. Severe forms produce widespread disfiguring blistering and long lasting scarring.

EB can be fatal in early childhood, as swallowing can be impeded due to blistering of the throat. The condition is not contagious, but is inherited through defective genes, affecting 1 in every 20,000 newborn babies. There are 4,000 cases in the UK and almost half a million globally.

Diagnosis is confirmed by biopsy examining small skin samples under the microscope.

Avoidance of potential injuries is important, and so children should try to avoid rough and tumble activities, a very difficult request!! Protective measures to avoid rubbing of affected areas is important, and special care is neccessary in the choice of clothing, particularly shoes.

In severe forms, steroids will be used to supress the blistering reaction. Mild cases may gradually improve, whilst the most severe cases progress into serious forms of the disease.

Parents of an affected child should receive gentic counselling to discuss the risks of other children being sufferers, as the disorder can be diagnosed pre- natally, as early as 10 weeks into a pregnancy.

No cure yet exists but researchers are confident that successful treatment could be available within the next 5 to 7 years. Further information can be found at:

Dystrophic Epidermolysis Bullosa Research Association (DEBRA) http://www.debra.org.uk
IMPORTANT NOTICE : This content is from the Dr Chris Steele personal archive and is provided for convenience only. Information contained here may no longer agree with the most up to date medical advice. Please check with a medical professional before taking any action.

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