Rare Diseases and Pipeline

Epidermolysis Bullosa

Epidermolysis Bullosa is a rare, distressing and painful genetic skin disorder characterised by blistering, erosion or poorly healing ulceration of the skin, and, in some cases, the epithelial lining of other organs. Mutations in the genes of patients with the disorder mean proteins such as collagen and keratin, which are involved in the structure and function of their skin, do not function properly. As a result, patients’ skin is subject to severe blistering, open wounds and scarring in response to minor friction. EB is chronic, debilitating and potentially disfiguring and fatal. In the severest forms of the disease, patients are diagnosed in infancy.

Patients with EB have painful wounds and blisters affecting a substantial percentage of their bodies that can also lead to infection and scarring. There are four main types of EB of differing severity of disease. The type of disorder is dependent on the genetic mutations a patient has.

EB Simplex is typically the mildest form of the disease where blistering is frequently restricted to just the hands and feet.

Dominant dystrophic and recessive dystrophic forms of the disease are more severe than EB Simplex. Dystrophic EB derives its name from the tendency of the blisters to heal with scarring. This process can lead to contraction of the joints, fusion of the fingers and toes, contraction of the mouth membranes and narrowing of the oesophagus. There is a high chance of recessive dystrophic EB sufferers developing squamous cell carcinoma of the skin (a form of skin cancer) before the age of 35.

Junctional EB in its generalised severe form (Herlitz-subtype) is the most severe form of EB and most children born with it do not survive beyond the age of three.

All types of EB share the common symptom of fragile skin that blisters and tears from the slightest friction or trauma.

Please see the following link to a Channel 4 documentary about Jonny Kennedy, a man who suffered with Dystrophic EB, to learn more about the lives of EB sufferers.

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