The PERIOPTER syndrome (periorificial and ptychotropic erythrokeratoderma): a new Mendelian disorder of cornification

J Eur Acad Dermatol Venereol. 2019 Jan;33(1):e1-e3. doi: 10.1111/jdv.15089. Epub 2018 Jun 13.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Alcohol Oxidoreductases / genetics
  • Child, Preschool
  • Female
  • Humans
  • Infant
  • Skin Diseases, Genetic / diagnosis*
  • Skin Diseases, Genetic / genetics
  • Syndrome

Substances

  • Alcohol Oxidoreductases
  • 3-ketodihydrosphingosine reductase