Epidermolytic ichthyosis due to a de novo missense mutation c.1307T> C; p.Leu436Pro in KRT10

J Dtsch Dermatol Ges. 2019 Jan;17(1):82-84. doi: 10.1111/ddg.13720. Epub 2018 Dec 6.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Child, Preschool
  • Female
  • Heterozygote
  • Humans
  • Hyperkeratosis, Epidermolytic / drug therapy
  • Hyperkeratosis, Epidermolytic / genetics*
  • Hyperkeratosis, Epidermolytic / pathology
  • Indicators and Reagents / administration & dosage
  • Indicators and Reagents / therapeutic use
  • Keratin-10 / genetics*
  • Mutation, Missense / genetics*
  • Ointments / administration & dosage
  • Ointments / therapeutic use
  • Phenotype
  • Potassium Permanganate / administration & dosage
  • Potassium Permanganate / therapeutic use
  • Skin Abnormalities / genetics
  • Skin Abnormalities / pathology
  • Treatment Outcome
  • Urea / administration & dosage
  • Urea / therapeutic use

Substances

  • Indicators and Reagents
  • KRT10 protein, human
  • Ointments
  • Potassium Permanganate
  • Keratin-10
  • Urea