Extending the phenotypic spectrum of keratitis-ichthyosis-deafness syndrome: report of a patient with GJB2 (G12R) Connexin 26 mutation and unusual clinical findings.
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.
Department of Dermatology and Skin Surgery, Roger Williams Medical Center/Boston University School of Medicine, Providence, RI 02908, USA.
Tamara
T
Lazic
Qiaoli
Q
Li
Michael
M
Frank
Jouni
J
Uitto
Linda H
LH
Zhou
D000970:Antineoplastic Agents / Q000627:therapeutic use; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D003622:Dapsone / Q000627:therapeutic use; D003638:Deafness / Q000188:drug therapy / Q000235:genetics* / Q000473:pathology; D003879:Dermatologic Agents / Q000627:therapeutic use; D004359:Drug Therapy, Combination; D005260:Female; D006801:Humans; D007057:Ichthyosis / Q000188:drug therapy / Q000235:genetics* / Q000473:pathology; D007634:Keratitis / Q000188:drug therapy / Q000235:genetics* / Q000473:pathology; D008911:Minocycline / Q000627:therapeutic use; D009061:Mouth Mucosa / Q000187:drug effects / Q000473:pathology; D009154:Mutation; D009506:Nevus / Q000188:drug therapy / Q000235:genetics / Q000473:pathology; D017192:Skin Diseases, Bacterial / Q000188:drug therapy / Q000235:genetics / Q000473:pathology; D012878:Skin Neoplasms / Q000188:drug therapy / Q000235:genetics / Q000473:pathology; D013148:Spironolactone / Q000627:therapeutic use; D016896:Treatment Outcome; D055815:Young Adult
D000970:Antineoplastic Agents; D017630:Connexins; D003879:Dermatologic Agents; C000607042:GJB2 protein, human; D000072259:Connexin 26; D013148:Spironolactone; D003622:Dapsone; D008911:Minocycline