title: Trichothiodystrophy with dysmyelination and central osteosclerosis.
abstract: 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.
authors.affiliation: Department of Neuroradiology, Duke University Medical Center, Durham, NC 27710, USA. julie.harreld@duke.edu
authors.forename: J H
authors.initials: JH
authors.lastname: Harreld
authors.forename: E C
authors.initials: EC
authors.lastname: Smith
authors.forename: N S
authors.initials: NS
authors.lastname: Prose
authors.forename: P K
authors.initials: PK
authors.lastname: Puri
authors.forename: D P
authors.initials: DP
authors.lastname: Barboriak
mesh_terms: D002675:Child, Preschool; D003711:Demyelinating Diseases / Q000150:complications* / Q000175:diagnosis; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D010026:Osteosclerosis / Q000150:complications* / Q000175:diagnosis; D054463:Trichothiodystrophy Syndromes / Q000150:complications*