EB is a genetic disorder, passed on from parents to children, which causes blistering and shearing of the skin from even the gentlest friction and sometimes even spontaneously.
There are three major types of EB, Simplex, Dystrophic and Junctional. These vary from relatively mild to incapacitating, crippling, and sometimes fatal, disorders. Within these there are over twenty different sub types of EB, each with their own characteristic symptoms. The genes responsible for most of the sub-types of the condition are now known. Some still await identification.
The genetic defects result in the skin cells collapsing or skin layers not adhering properly to each other, causing areas of structural weakness. This fragile skin is particularly vulnerable to damage from friction, causing the continual blistering that is the characteristic feature of the condition.
More than skin deep…
Although the effects of EB on the skin are the most visible symptoms, other parts of the body can be affected. The inside of the mouth may blister, causing acute discomfort and, in some cases, restricted opening. The gullet can also be affected causing difficulties in swallowing and eating. Other mucosal linings may be affected including the eyes and anus.
[boxibt style=”success”]Information Courtesy of:
DEBRA the support group charity of the EB community. DEBRA UK, the first and largest of 29 national DEBRA organisations round the world, directly funds a comprehensive specialist nursing service and medical and scientific research programmes. Registered Charity No. 284754
DEBRA can be contacted at:
Wellington Business Park
CROWTHORNE RG45 6LS
Tel: 01344 771961
Fax: 01344 762661
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