The trichothiodystrophy syndrome of Pollitt

Pediatr Radiol. 1988;18(2):154-6. doi: 10.1007/BF02387560.


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.

Publication types

  • Case Reports

MeSH terms

  • Bone Diseases, Metabolic
  • Child, Preschool
  • Cystine / deficiency*
  • Dwarfism
  • Hair / abnormalities*
  • Humans
  • Intellectual Disability
  • Male
  • Osteosclerosis
  • Syndrome


  • Cystine