PT - JOURNAL ARTICLE AU - J.H. Harreld AU - E.C. Smith AU - N.S. Prose AU - P.K. Puri AU - D.P. Barboriak TI - Trichothiodystrophy with Dysmyelination and Central Osteosclerosis AID - 10.3174/ajnr.A1665 DP - 2010 Jan 01 TA - American Journal of Neuroradiology PG - 129--130 VI - 31 IP - 1 4099 - http://www.ajnr.org/content/31/1/129.short 4100 - http://www.ajnr.org/content/31/1/129.full SO - Am. J. Neuroradiol.2010 Jan 01; 31 AB - SUMMARY: Trichothiodystrophy (TTD) is a rare group of autosomal recessive disorders of DNA repair unified by the presence of sulfur-deficient brittle hair. We report a 3-year-old boy with classic clinical features of TTD, including ichthyosis, alopecia, developmental delay, and tiger-tail banding of the hair shaft on polarizing microscopy. Brain MR imaging showed both diffuse dysmyelination and osteosclerosis, findings that, in combination, may be specific for TTD.