Summary
Epidermolysis bullosa are a group of skin fragility during which blisters and erosions occur either spontaneously or after mild physical trauma. There are several forms of congenital and hereditary epidermolysis bullosa as well as acquired forms clinically very similar to the former but with adult onset. About 20 different congenital and inherited forms have been observed and classified into 3 groups according to the layer in which cleavage occurs in the dermoepidermal junction: intraepidermal forms (mild, non-cicatricial), junctional forms(cleavage within the pars lucida) and dermatolytic or dystrophic forms (cleavage under the lamina basalis). Junctional forms: Herlitz' lethal junctional epidermolysis bullosa, transmitted as an autosomal recessive trait, is present at birth; it is marked with extensive denudation of skin and mucous membranes that may be hemorrhagic, and the absence of nails. Lesions do not scar spontaneously and death occurs usually within the first 6 months. Prenatal diagnosis is feasible. Hintner-Wolff's non-lethal junctional epidermolysis bullosa or Generalized Atrophic Begnign Epidermolysis Bullosa (GABEB), transmitted as an autosomal recessive trait, causes identical clinical signs but the infant survives with growth retardation and laryngeal granuloma that may require tracheotomy. Prenatal diagnosis is feasible. Identified mutations affect genes encoding for the three branches of laminin 5, alpha-6-beta-4 integrin and BPAG2. *Author: C. Blanchet-Bardon, M.D. (April 2002) *
