Extending the phenotypic spectrum of keratitis-ichthyosis-deafness syndrome: Report of a patient with GJB2 (G12R) connexin 26 mutation and unusual clinical findings

Tamara Lazic, Qiaoli Li, Michael Frank, Jouni Uitto, Linda H. Zhou

Research output: Contribution to journalArticlepeer-review

43 Scopus citations

Abstract

Keratitis-ichthyosis-deafness (KID) syndrome is a rare ectodermal dysplasia, characterized mainly by the presence of hyperkeratotic skin lesions, neurosensory hearing loss, and vascularizing keratitis. Most mutations that have been discovered as a cause of KID syndrome are autosomal dominant, found in exon 2 of the Connexin (Cx) 26 gene. A G12R (p.Gly12Arg) is a GJB2 mutation reported in only two patients with KID syndrome to date. This article describes a patient with the G12R mutation and KID syndrome with interesting additional features, which include a porokeratotic eccrine ostial and dermal duct nevus, follicular occlusion triad, and unusual persistent oral mucosal papules. We compare this patient's phenotype with the only two other patients described with the same (G12R) mutation. The phenotypic heterogeneity of KID syndrome, inexplicable according to our current understanding of these proteins, speaks to the complexity of the connexin system and its overlapping expression patterns in different tissues.

Original languageEnglish
Pages (from-to)349-357
Number of pages9
JournalPediatric Dermatology
Volume29
Issue number3
DOIs
StatePublished - May 2012
Externally publishedYes

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