A novel mutation of keratin 5 in epidermolysis bullosa simplex with migratory circinate erythema

Pediatr Dermatol. 2020 Mar;37(2):358-361. doi: 10.1111/pde.14087. Epub 2020 Jan 21.

Abstract

Epidermolysis bullosa simplex migratory circinate erythema (EBS-Migr) is an uncommon subtype of EBS. We report a case of EBS-MIGR with a novel heterozygous pathogenic mutation in exon 9 (frameshift deletion c.1650delC) and likely benign heterozygous mutation in exon 2 (missense c.591C > A) of keratin 5. This novel pathogenic mutation in KRT5 expands the molecular spectrum of this rare subtype of EBS.

Keywords: epidermolysis bullosa; genetic diseases/mechanisms; genodermatosis.

Publication types

  • Case Reports

MeSH terms

  • Child, Preschool
  • Epidermolysis Bullosa Simplex / genetics*
  • Epidermolysis Bullosa Simplex / pathology*
  • Erythema / genetics*
  • Erythema / pathology*
  • Humans
  • Keratin-5 / genetics*
  • Male
  • Mutation / genetics*

Substances

  • KRT5 protein, human
  • Keratin-5

Supplementary concepts

  • Epidermolysis Bullosa Simplex with Migratory Circinate Erythema