The trichothiodystrophy syndrome of Pollitt.
Trichothiodystrophy, or sulphur-deficient brittle hair, is a clinical marker for a syndrome that consists primarily of cystine (and hence sulphur)-deficient brittle hair, nail dysplasia, mental and physical retardation and decreased fertility. The radiological aspects of this syndrome have received scant mention in the literature. I describe a 5-year-old boy whose skeleton exhibits axial osteosclerosis and peripheral osteopenia which is similar to two other previously described cases.
Chapman
S
S
Department of Radiology, Children's Hospital, Birmingham, UK.
D001851:Bone Diseases, Metabolic; D002675:Child, Preschool; D003553:Cystine / Q000172:deficiency*; D004392:Dwarfism; D006197:Hair / Q000002:abnormalities*; D006801:Humans; D008607:Intellectual Disability; D008297:Male; D010026:Osteosclerosis; D013577:Syndrome
D003553:Cystine