Central osteosclerosis with trichothiodystrophy

Pediatr Radiol. 2004 Jul;34(7):541-6. doi: 10.1007/s00247-004-1207-7. Epub 2004 May 18.


Trichothiodystrophy (TTD) is a rare, autosomal recessive, multisystem disorder associated with defects in nucleotide excision repair. We report a 7-year-old boy with TTD due to mutation in the XPD gene. The patient has classic features of this condition, including brittle, sulphur-deficient hair, ichthyosis, growth retardation and developmental delay. In addition, he has radiological evidence of progressive central osteosclerosis. Although similar radiological findings have previously been reported in a small number of patients, this association is not widely recognised. We review the radiological findings in this and other similar cases and discuss the natural history of these bony changes.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple / diagnosis
  • Abnormalities, Multiple / genetics
  • Child
  • Hair Diseases / diagnosis*
  • Hair Diseases / genetics
  • Humans
  • Ichthyosis / diagnosis*
  • Ichthyosis / genetics
  • Magnetic Resonance Imaging
  • Male
  • Mutation
  • Nail Diseases / diagnosis*
  • Nail Diseases / genetics
  • Osteosclerosis / diagnosis*
  • Osteosclerosis / genetics