(EB) is a group of inherited conditions where the skin, or mucous membranes (the lining of the mouth, gut, or eyes, for example), blister with only mild trauma, friction or even spontaneously.
It is not gender or ethnicity specific.
The genetic errors in EB result in defects in the skin proteins,and because one or more of the proteins that stick the outer and deeper layers of skin together are either faulty or missing.
- Over the past 15-20 years, 13 major genes responsible for the majority of cases of EB have been identified.
- EB is not a single condition: the various types are divided into three main groups according to the depth below the skin surface at which the blisters occur:
- EB Simplex (EBS), defects in keratins 5 and 14, or plectin proteins
- Junctional EB (JEB), defects in laminins and plectin
- Dystrophic EB (DEB) defects in collagen 7 protein.
In the UK there are up to 5000 people with EB, of which around 1000 have the more severe forms.
The three types, EBS, RDEB and JEB, vary widely in the type and severity of symptoms, and the impact on the patient’s life.
At present there is no cure and no treatment that makes a significant difference to patients with any form of EB. Treatment is limited to chronic wound care and pain control. There are however many Clinical Trials in the early stages and some on the verge of starting which aim to provide the first layer of treatments to improve quality of life.
EB skin is never able to ever heal properly with normal strength: chronic open wounds and extensive scarring develop with attendant pain. Each time EB skin is damaged, the damage is irreversible, and so disfigurement and disability accrue over a lifetime. Some severe forms of EB are fatal in infancy; others in older children and young adult.