Keratitis-Ichthyosis-Deafness Syndrome: Early Death Caused by the GJB2 Mutation p.Gly12Arg

Acta Derm Venereol. 2019 Sep 1;99(10):921-922. doi: 10.2340/00015555-3218.
No abstract available

Keywords: ichthyosis; lethal; septicaemia; KID syndrome.

Publication types

  • Case Reports

MeSH terms

  • Child
  • Connexin 26
  • Connexins / genetics*
  • Deafness / diagnosis
  • Deafness / genetics*
  • Deafness / therapy
  • Disease Progression
  • Fatal Outcome
  • Genetic Predisposition to Disease
  • Humans
  • Ichthyosis / diagnosis
  • Ichthyosis / genetics*
  • Ichthyosis / therapy
  • Keratitis / diagnosis
  • Keratitis / genetics*
  • Keratitis / therapy
  • Male
  • Mutation*
  • Phenotype

Substances

  • Connexins
  • GJB2 protein, human
  • Connexin 26

Supplementary concepts

  • Keratitis, Ichthyosis, and Deafness (KID) Syndrome