Trichothiodystrophy photosensitive

Common Name(s)

Trichothiodystrophy photosensitive

Trichothiodystrophy (TTD) is a term introduced by {20:Price et al. (1980)} for sulfur-deficient brittle hair. Patients with trichothiodystrophy have brittle hair and nails (because of reduced content of cysteine-rich matrix proteins), ichthyotic skin, and physical and mental retardation. Approximately half of the patients display photosensitivity, correlated with a nucleotide excision repair (NER) defect. See {234050} for a discussion of nonphotosensitive trichothiodystrophy (TTDN1). As is the situation with Cockayne syndrome ({216400}), no cases of skin cancer had been reported with trichothiodystrophy ({11:Itin and Pittelkow, 1990}; {21:Stary and Sarasin, 1996}).
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Trichothiodystrophy photosensitive" for support, advocacy or research.

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Scientific Literature

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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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