A severe familial phenotype of Ichthyosis Curth-Macklin caused by a novel mutation in the KRT1 gene

Br J Dermatol. 2013 Feb;168(2):456-8. doi: 10.1111/j.1365-2133.2012.11181.x.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • Child, Preschool
  • Dermatitis, Seborrheic / genetics*
  • Dermatitis, Seborrheic / pathology
  • Female
  • Humans
  • Ichthyosis / genetics*
  • Ichthyosis / pathology
  • Keratin-1 / genetics*
  • Mutation / genetics*

Substances

  • KRT1 protein, human
  • Keratin-1

Supplementary concepts

  • Ichthyosis hystrix, Curth Macklin type