Pediatric Radiology

, Volume 34, Issue 7, pp 541–546 | Cite as

Central osteosclerosis with trichothiodystrophy

  • Emma L. Wakeling
  • Michele Cruwys
  • Mohnish Suri
  • Angela F. Brady
  • Sarah E. Aylett
  • Christine Hall
Original Article


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.


Skeleton Trichothiodystrophy Osteosclerosis Osteoporosis Children 


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Copyright information

© Springer-Verlag 2004

Authors and Affiliations

  • Emma L. Wakeling
    • 1
  • Michele Cruwys
    • 2
  • Mohnish Suri
    • 3
  • Angela F. Brady
    • 1
  • Sarah E. Aylett
    • 4
  • Christine Hall
    • 5
  1. 1.North West Thames Regional Genetics Service, Kennedy–Galton Centre, Level 8 VNorth West London Hospitals NHS TrustHarrowUK
  2. 2.Department of PaediatricsHillingdon HospitalHillingdonUK
  3. 3.Clinical Genetics ServiceCity HospitalNottinghamUK
  4. 4.Neurosciences UnitGreat Ormond Street Hospital for Children NHS TrustLondonUK
  5. 5.Department of RadiologyGreat Ormond Street Hospital for Children NHS TrustLondonUK

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