: MeSH: Trichothiodystrophy Syndromes

Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Abnormalities, Multiple > Trichothiodystrophy Syndromes

Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Skin Diseases, Genetic > Trichothiodystrophy Syndromes

Skin and Connective Tissue Diseases > Skin Diseases > Skin Diseases, Genetic > Trichothiodystrophy Syndromes

Skin and Connective Tissue Diseases > Skin Diseases > Skin Abnormalities > Trichothiodystrophy Syndromes

Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Skin Abnormalities > Trichothiodystrophy Syndromes

Trichothiodystrophy Syndromes

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Autosomal recessive neuroectodermal disorders characterized by brittle sulfur-deficient hair associated with impaired intellect, decreased fertility, and short stature. It may include nail dystrophy, ICHTHYOSIS, and photosensitivity correlated with a NUCLEOTIDE EXCISION REPAIR defect. All individuals with this disorder have a deficiency of cysteine-rich KERATIN-ASSOCIATED PROTEINS found in the interfilamentous matrix. Photosensitive trichothiodystrophy can be caused by mutation in at least 2 separate genes: ERCC2 PROTEIN gene and the related ERCC3. Nonphotosensitive trichothiodystrophy can be caused by mutation in the TTDN1 gene.

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