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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Pseudoxanthoma elasticum


Other Names for this Disease

  • Gronblad Strandberg syndrome
  • PXE
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Overview

What is pseudoxanthoma elasticum (PXE)?

What is pseudoxanthoma elasticum (PXE)?

Pseudoxanthoma elasticum, PXE, is an inherited disorder that causes calcium and other minerals to accumulate in the elastic fibers of the skin, eyes, and blood vessels, and less frequently in other areas such as the digestive tract.  PXE may cause the following symptoms: growth of yellowish bumps on the skin of the neck, under the arms, or in the groin area; reduced vision; periodic weakness in the legs (claudication); or bleeding in the gastrointestinal tract, particularly the stomach.  A clinical diagnosis of PXE can be made when an individual is found to have both the characteristic eye findings and yellow bumps on the skin.  ABCC6 is the only gene known to be associated with this condition.  Currently, there is no treatment for this condition, but affected individuals may benefit from routine visits to an eye doctor who specializes in retinal disorders, and by having regular physical examinations with their primary physician.[1]
Last updated: 8/16/2011

References
  1. Terry SF, Bercovitch L. Pseudoxanthoma Elasticum. GeneReviews. 2011; http://www.ncbi.nlm.nih.gov/books/NBK1113/. Accessed 8/12/2011.


Other Names for this Disease
  • Gronblad Strandberg syndrome
  • PXE
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.