Trichothiodystrophy in a Child with Occult Learning Disorder

Trichothiodystrophy (TTD) is an autosomal recessive disorder marked by brittle, sulfur-deficient hair, often linked to a genetic mutation in DNA nucleotide excision repair (NER) in up to 83% of cases. This case report focused on a 13-month-old girl with hair fragility and loss since 3 months of age, emphasizing the overlap between TTD and other NER diseases. It underscored the importance of early diagnosis of occult learning disorders in children with TTD and advocated for early assessment and a multidisciplinary approach to address the child's educational needs.