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Pseudoxanthoma elasticum

What is Pseudoxanthoma elasticum?

A rare, genetic, metabolic disease with connective tissue and eye involvement, characterized by progressive ectopic mineralization and fragmented elastic fibers in the skin, retina and vascular walls.

Other condition names

  • Gronblad-Strandberg-Touraine syndrome
  • PXE

Inheritance type

Autosomal recessive

Prevalence

  • Europe: 1-9 in 100,000

Age of Onset

  • All ages
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on "https://www.orphadata.com". Data version 1.3.16 / 4.1.7.