Palmoplantar Keratoderma with Leukokeratosis Anogenitalis Caused by KDSR Mutations

J Invest Dermatol. 2020 Aug;140(8):1662-1665.e1. doi: 10.1016/j.jid.2019.11.029. Epub 2020 Jan 25.
No abstract available

Publication types

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

MeSH terms

  • Alcohol Oxidoreductases / genetics*
  • DNA Mutational Analysis
  • Female
  • Foot
  • Hand
  • Humans
  • Keratoderma, Palmoplantar / diagnosis
  • Keratoderma, Palmoplantar / genetics*
  • Keratoderma, Palmoplantar / pathology
  • Leukoplakia / genetics*
  • Leukoplakia / pathology
  • Mutation
  • Perineum / pathology
  • Skin / pathology

Substances

  • Alcohol Oxidoreductases
  • 3-ketodihydrosphingosine reductase