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.

• Authors: Lauren Geller, Leonard Kristal, Kimberly D Morel
• Journal: Pediatric dermatology (Pediatr Dermatol) 2013 Sep-Oct Vol. 30 Issue 5 Pg. 631-2 ISSN: 1525-1470 [Electronic] United States
• PMID: 23889190 (Publication Type: Case Reports, Journal Article)
• Copyright: © 2013 Wiley Periodicals, Inc.

Chemical References

• KRT5 protein, human
• Keratin-5

Topics

• Epidermolysis Bullosa Simplex (genetics, pathology)
• Female
• Humans
• Infant, Newborn
• Keratin-5 (genetics)
• Pigmentation Disorders (genetics, pathology)
• Point Mutation
• Skin (pathology)