Novel mutations in desmoglein 1: focal palmoplantar keratoderma in milder phenotypes

Br J Dermatol. 2019 Sep;181(3):618-620. doi: 10.1111/bjd.17839. Epub 2019 Jun 2.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adult
  • DNA Mutational Analysis
  • Desmoglein 1 / genetics*
  • Female
  • Humans
  • Keratoderma, Palmoplantar, Diffuse / diagnosis
  • Keratoderma, Palmoplantar, Diffuse / genetics*
  • Male
  • Mutation
  • Papilloma / diagnosis
  • Papilloma / genetics*
  • Pedigree

Substances

  • DSG1 protein, human
  • Desmoglein 1

Supplementary concepts

  • Hyperkeratosis of the palms and soles and esophageal papillomas