Generalized epidermolytic hyperkeratosis in two unrelated children from parents with localized linear form, and prenatal diagnosis

J Invest Dermatol. 2006 Dec;126(12):2715-7. doi: 10.1038/sj.jid.5700553. Epub 2006 Sep 21.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • DNA Mutational Analysis
  • Female
  • Glutamic Acid
  • Humans
  • Hyperkeratosis, Epidermolytic / diagnosis*
  • Hyperkeratosis, Epidermolytic / genetics*
  • Infant, Newborn
  • Isoleucine
  • Keratin-1 / genetics
  • Keratin-10 / genetics
  • Lysine
  • Mutation
  • Phenylalanine
  • Prenatal Diagnosis*
  • Skin / pathology

Substances

  • KRT1 protein, human
  • KRT10 protein, human
  • Keratin-1
  • Isoleucine
  • Keratin-10
  • Glutamic Acid
  • Phenylalanine
  • Lysine