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Pollitt syndrome

Orpha number ORPHA75790
Synonym(s) Trichorrhexis nodosa syndrome
Trichothiodystrophy - neurocutaneous syndrome
Trichothiodystrophy type C
Prevalence -
Inheritance -
Age of onset -
ICD-10 -
OMIM
UMLS -
MeSH -
MedDRA -
SNOMED CT
  • 238736006

Summary

Pollitt syndrome is a form of trichothiodystrophy characterized by abnormally brittle, sulphur-deficient hair (trichothiodystrophy), combined with intellectual disability and growth retardation. It is a rare autosomal recessive syndrome. Diagnosis is based on the clinical signs, hair examination in polarized light, and biochemical evidence of the sulfered aminoacid deficiency (in particular cystine) in the hair. Scanning electron microscopy reveals defective cuticles. Some authors suggest that Pollitt syndrome, Sabinas brittle hair syndrome and Amish brittle hair syndrome are the same disorder.

Expert reviewer(s)

  • Dr Carmen CANTISANI
  • Dr Alfredo ROSSI

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