Document Detail

A report of GJB2 (N14K) Connexin 26 mutation in two patients--a new subtype of KID syndrome?
MedLine Citation:
PMID:  18950394     Owner:  NLM     Status:  MEDLINE    
Keratitis-ichthyosis-deafness syndrome is a rare congenital ectodermal disorder, characterized by presence of skin lesions, neurosensory hearing loss, and vascularizing keratitis. Several autosomal dominant mutations in the Connexin 26 gene (GJB2) have been discovered as a cause of this syndrome. We report two patients who presented with a combination of clinical features of keratitis-ichthyosis-deafness syndrome (e.g., congenital bilateral neurosensory hearing loss and erythrokeratoderma), however, lacking other characteristics typical of this condition. In addition, they both demonstrated striking mucocutaneous findings (e.g., chronic lip fissuring, gingival hyperemia), resulting in diagnostic difficulties. In both patients, a GJB2 mutation (N14K) was identified, which shares the same gene with classic Keratitis-ichthyosis-deafness syndrome but has never been described in patients with this condition. We propose that the findings observed in our patients are a distinct subtype of Keratitis-ichthyosis-deafness syndrome, thus expanding the spectrum of connexin-associated keratodermias.
Tamara Lazic; Kimberly A Horii; Gabriele Richard; Daniel I Wasserman; Richard J Antaya
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Pediatric dermatology     Volume:  25     ISSN:  1525-1470     ISO Abbreviation:  Pediatr Dermatol     Publication Date:    2008 Sep-Oct
Date Detail:
Created Date:  2008-10-27     Completed Date:  2009-02-06     Revised Date:  2009-03-03    
Medline Journal Info:
Nlm Unique ID:  8406799     Medline TA:  Pediatr Dermatol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  535-40     Citation Subset:  IM    
Department of Internal Medicine, Yale University School of Medicine, New Haven, Connecticut, USA.
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MeSH Terms
Child, Preschool
Connexins / genetics*
Deafness / classification,  diagnosis,  genetics*
Ichthyosis / classification,  genetics*,  pathology
Keratitis / classification,  genetics*,  pathology
Point Mutation*
Reg. No./Substance:
0/Connexins; 127120-53-0/connexin 26

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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