Palmoplantar keratoderma and perioral keratotic plaques with hypotrichosis in a child

Pediatr Dermatol. 2019 Nov;36(6):942-943. doi: 10.1111/pde.13928.
No abstract available

Publication types

  • Case Reports
  • Review

MeSH terms

  • Biopsy, Needle
  • Child
  • Female
  • Genetic Predisposition to Disease*
  • Humans
  • Hypotrichosis / complications
  • Hypotrichosis / diagnosis
  • Hypotrichosis / genetics*
  • Hypotrichosis / pathology*
  • Immunohistochemistry
  • Keratoderma, Palmoplantar / complications
  • Keratoderma, Palmoplantar / diagnosis
  • Keratoderma, Palmoplantar / genetics*
  • Keratoderma, Palmoplantar / pathology*
  • Male
  • Mutation / genetics
  • Rare Diseases
  • Syndrome
  • TRPV Cation Channels / genetics*

Substances

  • TRPV Cation Channels
  • TRPV3 protein, human