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Pseudoxanthoma elasticum

Disease definition

Pseudoxanthoma elasticum (PXE) is an inherited connective tissue disorder characterized by progressive calcification and fragmentation of elastic fibers in the skin, retina, and arterial walls.

ORPHA:758

  • Synonym(s):
    • Gronblad-Strandberg-Touraine syndrome
    • PXE
  • Prevalence: 1-9 / 100 000
  • Inheritance: Autosomal recessive 
  • Age of onset: All ages
  • ICD-10: Q82.8
  • OMIM: 177850  264800
  • UMLS: C0033847
  • MeSH: D011561
  • GARD: 9643
  • MedDRA: 10037150

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