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December 1993

The Molecular Genetics of Dystrophic Epidermolysis Bullosa

Author Affiliations

Laboratoire de Biochimie et Génétique Moléculaire INSERM U. 91 Hôpital Henri Mondor 51 Av du Maréchal de Lattre de Tassigny 94010 Créteil, France; Department of Dermatology and Department of Biochemistry and Molecular Dermatology Jefferson Medical College Thomas Jefferson University Philadelphia, PA 19107

Arch Dermatol. 1993;129(12):1566-1570. doi:10.1001/archderm.1993.04540010044005

EPIDERMOLYSIS BULLOSA (EB) is a heterogeneous group of inherited skin diseases characterized by blistering of the skin and mucous membranes after minor trauma.1-3 The genes responsible for the three groups of EB (EB simplex, junctional EB, and dystrophic EB [DEB]) have recently been identified, and some molecular defects within these genes have been characterized.4,5 Specifically, EB simplex has been shown to arise from mutations in the keratin 5 and 14 genes6-10; the genes encoding nicein/kalinin/epiligrin are the candidate genes in junctional EB11; and both dominant and recessive forms of DEB (DDEB and RDEB, respectively) have been closely linked to the type VII collagen gene (COL7A1)12-16 that encodes the major component of anchoring fibrils (AFs).17,18 Biochemistry and molecular biology of basement membrane zone components involved in human diseases have been reviewed by Marinkovich19 in this issue of the Archives. This editorial focuses on the

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