Distinct phenotype of epidermolysis bullosa simplex with infantile migratory circinate erythema due to frameshift mutations in the V2 domain of KRT5

J Eur Acad Dermatol Venereol. 2017 May;31(5):e241-e243. doi: 10.1111/jdv.14005. Epub 2016 Nov 2.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Biopsy
  • Child, Preschool
  • DNA / genetics*
  • DNA Mutational Analysis
  • Epidermolysis Bullosa Simplex / complications
  • Epidermolysis Bullosa Simplex / diagnosis
  • Epidermolysis Bullosa Simplex / genetics*
  • Erythema / complications
  • Erythema / diagnosis
  • Erythema / genetics*
  • Female
  • Frameshift Mutation*
  • Humans
  • Keratin-5 / genetics*
  • Keratin-5 / metabolism
  • Male
  • Pedigree
  • Phenotype
  • Skin / pathology

Substances

  • KRT5 protein, human
  • Keratin-5
  • DNA