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

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

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

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.

PMID:
23889190
DOI:
10.1111/pde.12206
[Indexed for MEDLINE]
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