Epidermolysis bullosa

Abstract

The term "hereditary epidermolysis bullosa" (EB) covers clinically and genetically heterogeneous diseases associated with blisters of the skin and mucous membranes after minimal trauma. The clinical severity ranges from severe subtypes with extreme skin fragility, disseminated blisters, and wounds to mild subtypes with blistering only after severe mechanical stress. The incidence for the entire disease group was estimated at about 1 per 50,000 births. In Germany, the incidence is about 1 in 25,000 births. Classical types of hereditary EB is caused by mutations in genes coding for proteins involved in dermal-epidermal adhesion. The classification of EB comprises five criteria: the level of blistering within the skin, the clinical phenotype, the mode of inheritance, the relative expression of the affected protein, and the disease-causing mutation.