What is Epidermolysis Bullosa?

EB is not a single condition, but a family of conditions. So far, 29 different sub-groupings have been identified and each family has a unique genetic flaw which causes the condition.

A parent with the condition has a 50:50 chance of passing it on to their child. There are three major forms of the condition - EB Simplex, Dystrophic EB and Junctional EB. EB Simplex is the mildest form of the condition and accounts for 55% of cases. It affects mainly the hands and the feet. Around 42% of sufferers have Dystrophic EB and 2-3% have Junctional EB which is often fatal.

What are the symptoms?

EB causes blisters which may be restricted to specific areas, for example, hands or feet, or may affect large areas of the body. In milder forms, the blisters heal normally without leaving permanent damage to the skin. In other forms, the blisters heal with scarring which can result in permanent change to the skin, for example, fingers may fuse and hands contract, reducing movement.

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 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.

What is the outlook?

It is an incurable condition, and, in all cases but one, the condition gets worse as the sufferer gets older. However, breakthroughs in the treatment of the condition have more than doubled children's survival rate.

Is help available?

DEBRA, the Dystrophic Epidemolysis Bullosa Research Association, was set up in 1978 as a self-help group for people and families with EB. The charity has now expanded into medical research. It also provides specialist care and welfare and educates the general public and health care professions about EB.