Trichothiodystrophy with dysmyelination and central osteosclerosis.

Published

Journal Article

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.

Full Text

Duke Authors

Cited Authors

  • Harreld, JH; Smith, EC; Prose, NS; Puri, PK; Barboriak, DP

Published Date

  • January 2010

Published In

Volume / Issue

  • 31 / 1

Start / End Page

  • 129 - 130

PubMed ID

  • 20075106

Pubmed Central ID

  • 20075106

Electronic International Standard Serial Number (EISSN)

  • 1936-959X

Digital Object Identifier (DOI)

  • 10.3174/ajnr.A1665

Language

  • eng

Conference Location

  • United States