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

Michael Lor; Michael Liu; Lawrence F Kuklinski; Marcia Hogeling

doi:10.1111/pde.14239

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

Pediatr Dermatol. 2020 Sep;37(5):955-957. doi: 10.1111/pde.14239. Epub 2020 Jun 16.

Authors

Michael Lor¹, Michael Liu¹, Lawrence F Kuklinski¹, Marcia Hogeling¹

Affiliation

¹ Division of Dermatology, Department of Medicine, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.

PMID: 32542816
DOI: 10.1111/pde.14239

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.

Keywords: epidermolysis bullosa; genetic diseases/mechanisms.

Publication types

Case Reports

MeSH terms

Arthrogryposis*
Collagen Type VII / genetics
Epidermolysis Bullosa Dystrophica* / diagnosis
Epidermolysis Bullosa Dystrophica* / genetics
Humans
Infant, Newborn
Mutation
Pedigree
Phenotype

Substances

COL7A1 protein, human
Collagen Type VII