Epidermolysis Bullosa with Pyloric Atresia and Significant Urologic Involvement. Issue 1 (4th November 2016)

• Record Type: Journal Article
• Authors: Walker, Gregory D.; Woody, Meghan; Orrin, Elizabeth; Mellerio, Jemima E.; Levy, Moise L.
• Is Part Of: Pediatric dermatology. Volume 34:Issue 1(2017:Jan./Feb.)
• Page Start: e61
• Page End: e64
• Publication Date: 2016-11-04
• Subjects: Pediatric dermatology -- Periodicals; Children -- Diseases -- Periodicals; 618.925
• DOI: 10.1111/pde.13026
• Languages: English
• ISSNs: 0736-8046

Abstract

Abstract: 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.