Abstract
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.
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Acknowledgements
We would particularly like to thank the family for their cooperation with this case report. We are also grateful to Professor Alan Lehman who carried out the DNA repair studies and mutation analysis and to Dr Richard Gibbons for his work on the haematological phenotype in this patient. Part of this work was undertaken by Great Ormond Street Hospital for Children NHS Trust, which received a proportion of its funding from the NHS Executive. The views expressed in this publication are those of the authors and are not necessarily those of the NHS Executive.
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Wakeling, E.L., Cruwys, M., Suri, M. et al. Central osteosclerosis with trichothiodystrophy. Pediatr Radiol 34, 541–546 (2004). https://doi.org/10.1007/s00247-004-1207-7
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DOI: https://doi.org/10.1007/s00247-004-1207-7