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PIBIDS syndrome

Orpha number ORPHA670
Synonym(s) Trichothiodystrophy - sun sensitivity
Trichothiodystrophy type F
Prevalence -
Inheritance -
Age of onset -
ICD-10 -
MeSH -
MedDRA -
  • 403796005


PIBIDS syndrome is a form of trichothiodystrophy (sulfur-deficient brittle hair) characterized by Ichtyosis, Brittle hair, Intellectual impairment, Decreased fertility, and Short stature (like in IBIDS syndrome) combined with photosensitivity. About 20 cases of PIBIDS have been reported in the literature. It is an autosomal recessive disorder. 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. Prenatal diagnosis is feasible. There is no specific treatment.

Expert reviewer(s)

  • Dr Carmen CANTISANI
  • Dr Alfredo ROSSI

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