Epidermolysis bullosa simplex with mottled pigmentation due to a rare keratin 5 mutation: cutaneous findings in infancy

Lauren Geller; Leonard Kristal; Kimberly D Morel

doi:10.1111/pde.12206

Epidermolysis bullosa simplex with mottled pigmentation due to a rare keratin 5 mutation: cutaneous findings in infancy

Pediatr Dermatol. 2013 Sep-Oct;30(5):631-2. doi: 10.1111/pde.12206. Epub 2013 Jul 26.

Authors

Lauren Geller¹, Leonard Kristal, Kimberly D Morel

Affiliation

¹ Department of Dermatology, Columbia University, New York, New York.

PMID: 23889190
DOI: 10.1111/pde.12206

Abstract

Epidermolysis bullosa simplex with mottled pigmentation (EBS-MP) is an autosomal dominant inherited blistering skin disease characterized by nonscarring blistering and reticulated hyperpigmentation. It is most commonly due to a heterozygous point mutation, P25L, in the nonhelical V1 domain of keratin 5 (KRT5). Here we present a case of EBS-MP with early onset of reticulated hyperpigmentation during infancy due to a rare 1649delG mutation in the V2 domain of KRT5.

Publication types

Case Reports

MeSH terms

Epidermolysis Bullosa Simplex / genetics*
Epidermolysis Bullosa Simplex / pathology*
Female
Humans
Infant, Newborn
Keratin-5 / genetics*
Pigmentation Disorders / genetics*
Pigmentation Disorders / pathology*
Point Mutation
Skin / pathology

Substances

KRT5 protein, human
Keratin-5

Supplementary concepts

Epidermolysis bullosa simplex with mottled pigmentation