Epidermolysis Bullosa with Pyloric Atresia and Significant Urologic Involvement.
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.
Department of Dermatology, Baylor Scott and White, Temple, Texas.
Gregory D
GD
Walker
Dell Medical School, University of Texas, Austin, Texas.
Meghan
M
Woody
St. John's Institute of Dermatology, Guy's and St. Thomas' National Health Service Foundation Trust, London, UK.
Elizabeth
E
Orrin
St. John's Institute of Dermatology, Guy's and St. Thomas' National Health Service Foundation Trust, London, UK.
Jemima E
JE
Mellerio
Dell Medical School, University of Texas, Austin, Texas.|Dell Children's Medical Center, Austin, Texas.
Moise L
ML
Levy
D004476:Ectodermal Dysplasia / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D051190:Plectin / Q000235:genetics*; D012867:Skin / Q000473:pathology*; D014570:Urologic Diseases / Q000175:diagnosis / Q000235:genetics*; D055815:Young Adult
C495332:PLEC protein, human; D051190:Plectin