A Japanese Case of Galli-Galli Disease due to a Previously Unreported POGLUT1 Mutation

Acta Derm Venereol. 2019 Apr 1;99(4):458-459. doi: 10.2340/00015555-3119.
No abstract available

Keywords: Dowling–Degos disease (DDD); POGLUT1; non-Caucasian.

Publication types

  • Case Reports

MeSH terms

  • Biopsy
  • DNA Mutational Analysis
  • Female
  • Frameshift Mutation*
  • Genetic Predisposition to Disease
  • Glucosyltransferases / genetics*
  • Humans
  • Hyperpigmentation / diagnosis
  • Hyperpigmentation / enzymology
  • Hyperpigmentation / genetics*
  • Japan
  • Middle Aged
  • Phenotype
  • Skin Diseases, Genetic / diagnosis
  • Skin Diseases, Genetic / enzymology
  • Skin Diseases, Genetic / genetics*
  • Skin Diseases, Papulosquamous / diagnosis
  • Skin Diseases, Papulosquamous / enzymology
  • Skin Diseases, Papulosquamous / genetics*
  • Skin Pigmentation / genetics*

Substances

  • Glucosyltransferases
  • POGLUT1 protein, human