Trichothiodystrophy with dysmyelination and central osteosclerosis

12Citations
Citations of this article
14Readers
Mendeley users who have this article in their library.

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.

Cite

CITATION STYLE

APA

Harreld, J. H., Smith, E. C., Prose, N. S., Puri, P. K., & Barboriak, D. P. (2010). Trichothiodystrophy with dysmyelination and central osteosclerosis. American Journal of Neuroradiology, 31(1), 129–130. https://doi.org/10.3174/ajnr.A1665

Register to see more suggestions

Mendeley helps you to discover research relevant for your work.

Already have an account?

Save time finding and organizing research with Mendeley

Sign up for free