Keratitis-ichthyosis-deafness syndrome: Phenotypic heterogeneity and treatment perspective of patients with p.Asp50Asn GJB2 mutation

Dermatol Ther. 2020 Nov;33(6):e14493. doi: 10.1111/dth.14493. Epub 2020 Nov 23.

Abstract

Keratitis-ichthyosis-deafness (KID) syndrome is caused by mutations in the GJB2 gene encoding connexin 26, a component of transmembrane hemichannels which form gap junction channels, critical for cell-cell communication. Here, we report two patients from two distinct families with KID syndrome with the same GJB2 mutation (p.Asp50Asn); in both cases the mutation was de novo, as the parents depicted the wild-type allele only. The patients' cutaneous manifestations were strikingly different illustrating the wide spectrum of phenotype of these patients, even with the same GJB2 mutation. One of the patients was treated with acitretin with dramatic improvement in his skin findings, illustrating the role of oral acitretin in treatment of patients with KID syndrome. Collectively, these patients attest to the phenotypic spectrum of KID syndrome, with therapeutic perspective.

Keywords: Connexin 26; GJB2; gap junctions; ichthyosis therapy; keratitis-ichthyosis-deafness syndrome.

Publication types

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

MeSH terms

  • Connexin 26 / genetics
  • Deafness* / diagnosis
  • Deafness* / drug therapy
  • Deafness* / genetics
  • Humans
  • Ichthyosis* / diagnosis
  • Ichthyosis* / drug therapy
  • Ichthyosis* / genetics
  • Keratitis* / diagnosis
  • Keratitis* / drug therapy
  • Keratitis* / genetics
  • Mutation
  • Phenotype

Substances

  • GJB2 protein, human
  • Connexin 26

Supplementary concepts

  • Keratitis-Ichthyosis-Deafness Syndrome