Central osteosclerosis with trichothiodystrophy.
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.
Wakeling
Emma L
EL
North West Thames Regional Genetics Service, Kennedy-Galton Centre, Level 8 V, North West London Hospitals NHS Trust, Watford Road, Harrow HAI 3UJ, Middlesex, UK. e.wakeling@imperial.ac.uk
Cruwys
Michele
M
Suri
Mohnish
M
Brady
Angela F
AF
Aylett
Sarah E
SE
Hall
Christine
C
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics; D002648:Child; D006201:Hair Diseases / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D007057:Ichthyosis / Q000175:diagnosis* / Q000235:genetics; D008279:Magnetic Resonance Imaging; D008297:Male; D009154:Mutation; D009260:Nail Diseases / Q000175:diagnosis* / Q000235:genetics; D010026:Osteosclerosis / Q000175:diagnosis* / Q000235:genetics