Hereditary Epidermolysis Bullosa

Abstract

Case reports, with histochemical and biochemical studies of biopsy material, are presented of epidermolysis bullosa simplex (EBS), an epidermal disease with cleavage through the basal cell layer; epidermolysis bullosa dystrophic dominant (EBDD), a junctional disease with cleavage through the PAS-positive membrane; and epidermolysis bullosa dystrophic recessive (EBDR), a dermal disease with cleavage below the PAS-positive basement membrane and characteristic dermal abnormalities. With the biopsy technique employed and a few histochemical stains, these diseases can be distinguished histopathologically, even on fresh autopsy material, allowing the term epidermolysis bullosa letalis to be abandoned, and aiding in decisions about prognosis. For cases of epidermolysis with early lethal outcome or particular severity, and the histopathologic picture of EBDR, the term EBDR, grave form, is suggested.