Document Detail


Trichothiodystrophy-like hair abnormalities in a child with keratitis ichthyosis deafness syndrome.
MedLine Citation:
PMID:  18789090     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Keratitis ichthyosis deafness syndrome is a rare congenital ectodermal disorder. It appears to be genetically heterogeneous and may be caused by mutations in the connexin 26 (Cx26) gene (GJB2) or in the connexin 30 gene. It is characterized by the association of ichthyosis-like skin lesions, hearing loss, and vascularizing keratitis. We report the clinical and molecular findings in a 5-year-old girl with keratitis ichthyosis deafness syndrome. DNA sequencing in our patient revealed a p.Ser17Phe mutation in GJB2. Besides the typical clinical features of keratitis ichthyosis deafness syndrome, a peculiar intriguing finding not previously described in the literature in this condition was that polarizing light microscopy of the scalp hair in our patient revealed striking bright and dark bands as seen in trichothiodystrophy. Amino acid analysis of the hair sample also disclosed a reduced cysteine index. We emphasize that it would be of great benefit to examine hair shafts in other patients with keratitis ichthyosis deafness syndrome for trichothiodystrophy-like abnormalities.
Authors:
L De Raeve; M Bonduelle; H Deconinck; D Roseeuw; J-J Stene
Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Pediatric dermatology     Volume:  25     ISSN:  1525-1470     ISO Abbreviation:  Pediatr Dermatol     Publication Date:    2008 Jul-Aug
Date Detail:
Created Date:  2008-09-15     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:  466-9     Citation Subset:  IM    
Affiliation:
Department of Dermatology, UZ Brussel, Vrije Universiteit Brussel, Brussels, Belgium. linda.deraeve@telenet.be
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MeSH Terms
Descriptor/Qualifier:
Child, Preschool
Connexins / genetics
Deafness / pathology*
Female
Hair / pathology*
Humans
Ichthyosis / pathology*
Keratitis / pathology*
Mutation
Syndrome
Trichothiodystrophy Syndromes / pathology*
Chemical
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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