Trichothiodystrophy With Dysmyelination and Central Osteosclerosis

Trichothiodystrophy (TTD) was a rare autosomal recessive disorder characterized by sulfur-deficient brittle hair and associated with symptoms such as ichthyosis, alopecia, developmental delay, and distinctive tiger-tail banding of the hair shaft. In a reported case of a 3-year-old boy with classic TTD features, brain MR imaging revealed both diffuse dysmyelination and osteosclerosis. These imaging findings, when observed together, were suggested to be potentially specific indicators for diagnosing TTD.