Trichothiodystrophy in a Child with Occult Learning Disorder

This case report described a 13-month-old girl with trichothiodystrophy (TTD), a rare autosomal recessive disorder characterized by brittle, sulfur-deficient hair and associated with various systemic manifestations. The patient exhibited hair fragility, developmental delays, and cardiac anomalies, consistent with TTD. The report emphasized the importance of early recognition and a multidisciplinary approach to management, involving dermatologists, cardiologists, neurologists, and allied health professionals. Genetic counseling and early intervention were highlighted as crucial for improving patient outcomes. The study also discussed the genetic basis of TTD, linking it to mutations in DNA nucleotide excision repair genes, and noted the variability in clinical presentation among patients.