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


YALICI ARMAĞAN B. , Kabacam S., TAŞKIRAN Z. E. , GÖKÖZ Ö. , ÜTİNE G. E. , ERSOY EVANS S.

PEDIATRIC DERMATOLOGY, vol.37, no.2, pp.358-361, 2020 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 37 Issue: 2
  • Publication Date: 2020
  • Doi Number: 10.1111/pde.14087
  • Title of Journal : PEDIATRIC DERMATOLOGY
  • Page Numbers: pp.358-361

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.