Update on the classification, diagnostics and therapy of epidermolysis bullosa hereditaria

Epidermolysis bullosa hereditaria is a group of inherited disorders characterized by blister formations on the skin and mucous membrane as result of molecular defects in the gene coding for different structural proteins. They present with a wide clinical spectrum of manifestations because of the variety of molecular defects. Epidermolysis bullosa is generally classified into three major types based on the level of tissue separation within the cutaneous basement membrane zone. Over the past decade enormous progress has been made in the understanding of the molecular basis of epidermolysis bullosa and the development of new clinical classifications and new diagnostic tools. Therapy consists of supportive skin care and supportive care for other organ systems and depends on the severity and extent of skin involvement and extracutaneous manifestations. The hope for the future is gene therapy. This review article presents the molecular basis, clinical classification, diagnostics, and therapy of epidermolysis bullosa hereditaria.