DNA-REPAIR INVESTIGATIONS IN 9 ITALIAN PATIENTS AFFECTED BY TRICHOTHIODYSTROPHY

Trichothiodystrophy (TTD) is a rare autosomal recessive disorder characterized by brittle hair, mental and growth retardation, peculiar face, ichthyosis, and in 20% of the reported cases photosensitivity. Cellular photosensitivity due to the same genetic defect present in xeroderma pigmentosum group D (XP-D) has been described in several patients.