Atypical presentation of Dowling-Degos disease with novel and recurrent mutations in POFUT1

Clin Exp Dermatol. 2018 Dec;43(8):937-939. doi: 10.1111/ced.13649. Epub 2018 May 24.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • Exome Sequencing
  • Female
  • Fucosyltransferases / genetics*
  • Humans
  • Hyperpigmentation / genetics*
  • Male
  • Middle Aged
  • Mutation
  • Pedigree
  • Phenotype
  • Skin Diseases, Genetic / genetics*
  • Skin Diseases, Papulosquamous / genetics*

Substances

  • Fucosyltransferases
  • polypeptide fucosyltransferase

Supplementary concepts

  • Dowling-Degos Disease