A novel connexin 26 mutation in a patient diagnosed with keratitis-ichthyosis-deafness syndrome

J Invest Dermatol. 2002 Apr;118(4):724-7. doi: 10.1046/j.1523-1747.2002.01735.x.


Keratitis-ichthyosis-deafness syndrome is a rare disorder characterized by erythrokeratoderma, deafness, and keratitis. Scarring alopecia and squamous cell carcinoma can also occur. Most cases described so far were sporadic. Here we present evidence that keratitis-ichthyosis-deafness syndrome is caused by a mutation in the connexin 26 gene. This finding expands the spectrum of disorders caused by defects in connexin 26 and implies the gene in normal corneal function, hair growth, and carcinogenesis.

Publication types

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

MeSH terms

  • Adult
  • Alopecia / genetics
  • Amino Acid Sequence
  • Connexin 26
  • Connexins / genetics*
  • Deafness / genetics*
  • Female
  • Humans
  • Ichthyosis / genetics*
  • Keratitis / genetics*
  • Molecular Sequence Data
  • Pedigree
  • Skin Neoplasms / genetics


  • Connexins
  • Connexin 26