A novel mutation in POFUT1 gene associated with Dowling-Degos disease and hidradenitis suppurativa

Int J Dermatol. 2021 Jan;60(1):e25-e27. doi: 10.1111/ijd.15092. Epub 2020 Aug 6.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adult
  • Female
  • Fucosyltransferases / genetics*
  • Hidradenitis Suppurativa* / diagnosis
  • Hidradenitis Suppurativa* / genetics
  • Humans
  • Hyperpigmentation
  • Mutation
  • Skin Diseases, Genetic* / diagnosis
  • Skin Diseases, Genetic* / genetics
  • Skin Diseases, Papulosquamous* / diagnosis
  • Skin Diseases, Papulosquamous* / genetics

Substances

  • Fucosyltransferases
  • polypeptide fucosyltransferase

Supplementary concepts

  • Dowling-Degos Disease