Exon 8 deletion of KRT5 in epidermolysis bullosa simplex with mottled pigmentation: A case report

J Dermatol. 2023 Dec;50(12):e415-e417. doi: 10.1111/1346-8138.16921. Epub 2023 Sep 2.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Epidermolysis Bullosa Simplex* / diagnosis
  • Epidermolysis Bullosa Simplex* / genetics
  • Exons / genetics
  • Humans
  • Keratin-5 / genetics
  • Pedigree
  • Pigmentation Disorders* / diagnosis
  • Pigmentation Disorders* / genetics

Substances

  • KRT5 protein, human
  • Keratin-5

Supplementary concepts

  • Epidermolysis bullosa simplex with mottled pigmentation