Trichothiodystrophy with dysmyelination and central osteosclerosis.
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.
Harreld
J H
JH
Department of Neuroradiology, Duke University Medical Center, Durham, NC 27710, USA. julie.harreld@duke.edu
Smith
E C
EC
Prose
N S
NS
Puri
P K
PK
Barboriak
D P
DP
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*