Orphanet: Pseudoxanthoma elasticum

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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.


Classification level: Disorder
  • 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

Detailed information

Article for general public


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