Article
Trichothiodystrophy-like hair abnormalities in a child with keratitis ichthyosis deafness syndrome.
Pediatric dermatology - 1 Jan 2000
De Raeve L, Bonduelle M, Deconinck H, Roseeuw D, Stene J-J
Abstract excerpt
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...
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