Generalized Atrophic Benign Epidermolysis Bullosa in 2 Siblings Complicated by Multiple Squamous Cell Carcinomas | Zendy

Ole Swensson | Zendy; Enno Christophers | Zendy

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Generalized Atrophic Benign Epidermolysis Bullosa in 2 Siblings Complicated by Multiple Squamous Cell Carcinomas

Author(s) -

Ole Swensson,

Enno Christophers

Publication year - 1998

Publication title -

archives of dermatology

Language(s) - English

Resource type - Journals

eISSN - 1538-3652

pISSN - 0003-987X

DOI - 10.1001/archderm.134.2.199

Subject(s) - epidermolysis bullosa , medicine , hemidesmosome , junctional epidermolysis bullosa (veterinary medicine) , pathology , dermatology , anchoring fibrils , laminin , basement membrane , cell , biology , genetics

Generalized atrophic benign epidermolysis bullosa is a form of junctional epidermolysis bullosa characterized by skin fragility; atrophic alopecia; sparse eyebrows, eyelashes, and axillary and pubic hair; dystrophic fingernails and toenails; and enamel defects in decidual and permanent teeth. Substantial progress was recently made elucidating the genetic defects underlying this disorder. In affected persons, pathogenetic mutations were identified in the genes encoding the beta 3 chain of laminin 5 (LAMB3) or the 180-kd bullous pemphigoid antigen (BPAG2/COL17A1).

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