A novel pathogenic mutation in the COL7A1 gene resulting in mild autosomal dominant bullous dermolysis of the newborn.
Overview
abstract
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.
