Epidermolysis bullosa with pyloric atresia consistently demonstrates concurrent low intra‐basal epidermal and lamina lucida cleavage planes: a survey of six cases
Sign Up to like & getrecommendations! Published in 2019 at "Journal of the European Academy of Dermatology and Venereology"
DOI: 10.1111/jdv.16153
Abstract: Epidermolysis bullosa with pyloric atresia (EB-PA) is a rare, autosomal recessive form of epidermolysis bullosa characterized by mucocutaneous fragility, intestinal obstruction, and frequent urologic and renal abnormalities. The clinical course is typically lethal in the… read more here.
Keywords: bullosa pyloric; pyloric atresia; consistently demonstrates; epidermolysis bullosa ... See more keywords
Compound Heterozygous Mutations with a Novel Variant in Integrin Beta4 Cause Epidermolysis Bullosa with Pyloric Atresia and Urologic Abnormalities
Sign Up to like & getrecommendations! Published in 2020 at "Yonsei Medical Journal"
DOI: 10.3349/ymj.2020.61.9.831
Abstract: www.eymj.org To the Editor, Epidermolysis bullosa (EB) with pyloric atresia (PA) is an autosomal recessive form of EB subtype that affects the skin, as well as digestive and frequently urogenital tracts. EB-PA is classified as… read more here.
Keywords: integrin; epidermolysis bullosa; urologic abnormalities; compound heterozygous ... See more keywords