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A novel pathogenic mutation in the COL7A1 gene resulting in mild autosomal dominant bullous dermolysis of the newborn
Author(s) -
Lor Michael,
Liu Michael,
Kuklinski Lawrence F.,
Hogeling Marcia
Publication year - 2020
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.14239
Subject(s) - medicine , mutation , phenotype , epidermolysis bullosa , gene , genetics , dermatology , pathology , biology
Bullous dermolysis of the newborn is a subtype of dystrophic epidermolysis bullosa that typically resolves within the first two years of life. We present a case of autosomal dominant bullous dermolysis of the newborn and report a novel pathogenic mutation. This case highlights that collagen VII mutations may present clinically with a mild phenotype.