A Child with Epidermolytic Ichthyosis from a Parent with Epidermolytic Nevus: Risk Evaluation of Transmission from Mosaic to Germline

J Invest Dermatol. 2017 Sep;137(9):2024-2026. doi: 10.1016/j.jid.2017.04.036. Epub 2017 May 19.
No abstract available

Publication types

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

MeSH terms

  • Child, Preschool
  • DNA Mutational Analysis
  • DNA, Neoplasm / genetics
  • Female
  • Germ-Line Mutation*
  • Humans
  • Hyperkeratosis, Epidermolytic / diagnosis
  • Hyperkeratosis, Epidermolytic / genetics*
  • Keratin-1 / genetics*
  • Keratin-1 / metabolism
  • Nevus, Pigmented / diagnosis
  • Nevus, Pigmented / genetics*
  • Parents*
  • Skin Neoplasms / diagnosis
  • Skin Neoplasms / genetics*

Substances

  • DNA, Neoplasm
  • KRT1 protein, human
  • Keratin-1