Trichothiodystrophy with dysmyelination and central osteosclerosis.
Publication
, Journal Article
Harreld, JH; Smith, EC; Prose, NS; Puri, PK; Barboriak, DP
Published in: AJNR Am J Neuroradiol
January 2010
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.
Duke Scholars
Published In
AJNR Am J Neuroradiol
DOI
EISSN
1936-959X
Publication Date
January 2010
Volume
31
Issue
1
Start / End Page
129 / 130
Location
United States
Related Subject Headings
- Trichothiodystrophy Syndromes
- Osteosclerosis
- Nuclear Medicine & Medical Imaging
- Male
- Magnetic Resonance Imaging
- Humans
- Demyelinating Diseases
- Child, Preschool
- 3406 Physical chemistry
- 3209 Neurosciences
Citation
APA
Chicago
ICMJE
MLA
NLM
Harreld, J. H., Smith, E. C., Prose, N. S., Puri, P. K., & Barboriak, D. P. (2010). Trichothiodystrophy with dysmyelination and central osteosclerosis. AJNR Am J Neuroradiol, 31(1), 129–130. https://doi.org/10.3174/ajnr.A1665
Harreld, J. H., E. C. Smith, N. S. Prose, P. K. Puri, and D. P. Barboriak. “Trichothiodystrophy with dysmyelination and central osteosclerosis.” AJNR Am J Neuroradiol 31, no. 1 (January 2010): 129–30. https://doi.org/10.3174/ajnr.A1665.
Harreld JH, Smith EC, Prose NS, Puri PK, Barboriak DP. Trichothiodystrophy with dysmyelination and central osteosclerosis. AJNR Am J Neuroradiol. 2010 Jan;31(1):129–30.
Harreld, J. H., et al. “Trichothiodystrophy with dysmyelination and central osteosclerosis.” AJNR Am J Neuroradiol, vol. 31, no. 1, Jan. 2010, pp. 129–30. Pubmed, doi:10.3174/ajnr.A1665.
Harreld JH, Smith EC, Prose NS, Puri PK, Barboriak DP. Trichothiodystrophy with dysmyelination and central osteosclerosis. AJNR Am J Neuroradiol. 2010 Jan;31(1):129–130.
Published In
AJNR Am J Neuroradiol
DOI
EISSN
1936-959X
Publication Date
January 2010
Volume
31
Issue
1
Start / End Page
129 / 130
Location
United States
Related Subject Headings
- Trichothiodystrophy Syndromes
- Osteosclerosis
- Nuclear Medicine & Medical Imaging
- Male
- Magnetic Resonance Imaging
- Humans
- Demyelinating Diseases
- Child, Preschool
- 3406 Physical chemistry
- 3209 Neurosciences