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Epidermolysis Bullosa Simplex with Mottled Pigmentation Due to a Rare Keratin 5 Mutation: Cutaneous Findings in Infancy

Authors


Address correspondence to Lauren Geller, M.D., Columbia University, 161 Fort Washington Ave., 12th Floor, New York, NY 10471, or e-mail: lg2574@columbia.edu.

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.

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