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trichothiodystrophy, photosensitiveAn autosomal recessive disorder (OMIM:601675) characterised by sulphur-deficient brittle hair and nails, ichthyosis, mental retardation, impaired sexual development, abnormal facies, and photosensitivity linked to a defect in nucleotide excision repair. Neonates with trichothiodystrophy and ichthyosis are usually born with a collodion membrane; the severity of ichthyosis after the membrane is shed ranges from a mild to severe lamellar ichthyotic phenotype. Skin cancer is not associated with TTDP.
Caused by defects of ERCC2, which encodes a protein involved in nucleotide excision repair (NER) of DNA, by opening DNA around the site of DNA damage, and in RNA transcription.
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