Photosensitive Trichothiodystrophy With Complex Cerebral Abnormalities

Trichothiodystrophy (TTD) was identified as a rare ectodermal disorder characterized by congenital hair dysplasia, autosomal recessive inheritance, and specific hair abnormalities such as tiger tail banding and low sulfur content. The study focused on a case involving a male infant from Chechenia who exhibited severe congenital dystrophy, microcephaly, and other symptoms leading to a TTD diagnosis. The infant died at 5 weeks due to recurrent apnea and aspiration, with autopsy revealing significant cerebral abnormalities. A male sibling with a similar phenotype also died at 3 months. The study highlighted a new classification scheme developed in 2009 for TTD, emphasizing the role of photosensitivity and genetic mutations in DNA repair mechanisms.