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Parana hard skin syndrome

Disease definition

Parana hard skin syndrome is a rare genetic skin disorder characterized by very early-onset of progressive skin thickening over the entire body (except for eyelids, neck and ears), progressively limited joint mobility with gradual freezing of joints, and eventual severe chest and abdomen movement restriction, manifesting with restrictive pulmonary disease, which may lead to death. Additional features include severe growth restriction and osteoporosis. There have been no further descriptions in the literature since 1974.

ORPHA:2812

Classification level: Disorder
  • Synonym(s):
    • Hard skin syndrome, Parana type
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: Infancy
  • ICD-10: L91.8
  • OMIM: 260530
  • UMLS: C1850079
  • MeSH: -
  • GARD: 2598
  • MedDRA: -
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