Extensive postzygotic mosaicism for a novel keratin 10 mutation in epidermolytic ichthyosis

Acta Derm Venereol. 2014 May;94(3):346-8. doi: 10.2340/00015555-1695.
No abstract available

Publication types

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

MeSH terms

  • Biopsy
  • Child, Preschool
  • DNA Mutational Analysis
  • Fluorescent Antibody Technique
  • Genetic Predisposition to Disease
  • Humans
  • Hyperkeratosis, Epidermolytic / diagnosis
  • Hyperkeratosis, Epidermolytic / genetics*
  • Hyperkeratosis, Epidermolytic / metabolism
  • Keratin-10 / analysis
  • Keratin-10 / genetics*
  • Male
  • Mosaicism*
  • Mutation*
  • Phenotype
  • Predictive Value of Tests
  • Severity of Illness Index
  • Skin / chemistry
  • Skin / pathology

Substances

  • KRT10 protein, human
  • Keratin-10