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Epidermolysis Bullosa with Pyloric Atresia and Significant Urologic Involvement
Author(s) -
Walker Gregory D.,
Woody Meghan,
Orrin Elizabeth,
Mellerio Jemima E.,
Levy Moise L.
Publication year - 2016
Publication title -
pediatric dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 73
eISSN - 1525-1470
pISSN - 0736-8046
DOI - 10.1111/pde.13026
Subject(s) - plectin , junctional epidermolysis bullosa (veterinary medicine) , epidermolysis bullosa , medicine , epidermolysis bullosa simplex , hemidesmosome , dermatology , pathology , atresia , ectodermal dysplasia , mutation , genetics , intermediate filament , biology , basement membrane , cytoskeleton , gene , cell
Epidermolysis bullosa (EB) is a rare inherited disease that causes epidermal fragility, blistering, and erosions. EB results from a variety of mutations in proteins of the skin and mucous membranes of the body. Mutations in plectin a protein involved in hemidesmosome integrity and function, are associated with subtypes of EB, including EB with pyloric atresia and EB with muscular dystrophy. We present two cases of EB with significant urologic involvement resulting from mutations in plectin.