Original Article

Pediatric Radiology

, Volume 34, Issue 7, pp 541-546

Central osteosclerosis with trichothiodystrophy

  • Emma L. WakelingAffiliated withNorth West Thames Regional Genetics Service, Kennedy–Galton Centre, Level 8 V, North West London Hospitals NHS Trust Email author 
  • , Michele CruwysAffiliated withDepartment of Paediatrics, Hillingdon Hospital
  • , Mohnish SuriAffiliated withClinical Genetics Service, City Hospital
  • , Angela F. BradyAffiliated withNorth West Thames Regional Genetics Service, Kennedy–Galton Centre, Level 8 V, North West London Hospitals NHS Trust
  • , Sarah E. AylettAffiliated withNeurosciences Unit, Great Ormond Street Hospital for Children NHS Trust
  • , Christine HallAffiliated withDepartment of Radiology, Great Ormond Street Hospital for Children NHS Trust

Rent the article at a discount

Rent now

* Final gross prices may vary according to local VAT.

Get Access

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.

Keywords

Skeleton Trichothiodystrophy Osteosclerosis Osteoporosis Children