Erschienen in:
01.07.2004 | Original Article
Central osteosclerosis with trichothiodystrophy
verfasst von:
Emma L. Wakeling, Michele Cruwys, Mohnish Suri, Angela F. Brady, Sarah E. Aylett, Christine Hall
Erschienen in:
Pediatric Radiology
|
Ausgabe 7/2004
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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.