Generalized, severe epidermolysis bullosa simplex caused by a Keratin 5 p.E477K mutation

Sarah E Sheppard; Laura Elizabeth Anderson; Cathryn Sibbald; Colleen Cotton; Elizabeth Bhoj; Marissa J Perman; Leslie Castelo-Soccio

doi:10.1111/pde.13965

Generalized, severe epidermolysis bullosa simplex caused by a Keratin 5 p.E477K mutation

Pediatr Dermatol. 2019 Nov;36(6):1007-1009. doi: 10.1111/pde.13965. Epub 2019 Oct 3.

Authors

Sarah E Sheppard¹, Laura Elizabeth Anderson², Cathryn Sibbald², Colleen Cotton², Elizabeth Bhoj^{1

3}, Marissa J Perman^{2

3}, Leslie Castelo-Soccio^{2

3}

Affiliations

¹ Division of Human Genetics, Children's Hospital of Philadelphia, PA, USA.
² Division of General Pediatrics, Section of Dermatology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
³ University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA.

PMID: 31579952
DOI: 10.1111/pde.13965

Abstract

Epidermolysis bullosa simplex (EBS) is a skin fragility disorder resulting from mutations of structural proteins in the epidermis. We provide a brief report of long-term survival and reproduction in a mother with EBS due to keratin 5 (KRT5) c.1429G > A (p.E477K) mutation, which causes a particularly severe form of the disease.

Keywords: epidermolysis bullosa; epidermolysis bullosa simplex; keratin 5; keratoconus.

Publication types

Case Reports

MeSH terms

Epidermolysis Bullosa Simplex / genetics*
Female
Humans
Infant
Keratin-5 / genetics*
Point Mutation*

Substances

KRT5 protein, human
Keratin-5