Epidermolytic epidermal nevus caused by a somatic mutation in KRT2

Pediatr Dermatol. 2021 Mar;38(2):538-540. doi: 10.1111/pde.14529. Epub 2021 Feb 8.

Abstract

Superficial epidermolytic ichthyosis (formerly Ichthyosis bullosa of Siemens) is an uncommon condition caused by dominant mutations in KRT2 encoding keratin 2. Epidermolytic epidermal nevus due to somatic mutations in KRT2 is even rarer. Here, we report the third case of KRT2-associated epidermal nevus and review the literature.

Keywords: KRT2; epidermal nevus; somatic mutation; superficial epidermolytic ichthyosis.

MeSH terms

  • Humans
  • Hyperkeratosis, Epidermolytic* / diagnosis
  • Hyperkeratosis, Epidermolytic* / genetics
  • Keratin-2 / genetics
  • Keratins / genetics
  • Mutation
  • Nevus* / genetics

Substances

  • KRT2 protein, human
  • Keratin-2
  • Keratins

Supplementary concepts

  • Epidermal Nevus

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