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

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.

journal_name

Pediatr Dermatol

journal_title

Pediatric dermatology

authors

Geller L,Kristal L,Morel KD

doi

10.1111/pde.12206

subject

Has Abstract

pub_date

2013-09-01 00:00:00

pages

631-2

issue

5

eissn

0736-8046

issn

1525-1470

journal_volume

30

pub_type

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