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Diseases

Genetic and Rare Diseases Information Center (GARD)

Pseudoxanthoma elasticum


Other Names for this Disease
  • PXE
  • Gronblad Strandberg syndrome
  • Gronblad-Strandberg-Touraine syndrome
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Treatment

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What treatment might be available for pseudoxanthoma elasticum?

Unfortunately, there is no cure for pseudoxanthoma elasticum.  Affected individuals are recommended to have regular physical examinations with their primary care physician and routine eye examinations with an eye doctor (ophthalmologist) who is familiar with retinal disorders.  A team of doctors in other specialties - including dermatology, cardiology, plastic surgeryvascular surgery, genetics, and nutrition - may also help with the management this condition.  Individuals should be alert to changes in their vision and should inform their eye doctor of any such changes.  Several therapies may be effective for slowing the reduction in vision in PXE.  Surgery may help to reduce skin symptoms, gastrointestinal symptoms, or severe vascular symptoms in the legs.[1]
Last updated: 8/16/2011

References
  1. Terry SF, Bercovitch L. Pseudoxanthoma Elasticum. GeneReviews. June 12, 2012; http://www.ncbi.nlm.nih.gov/books/NBK1113/. Accessed 5/21/2015.


GARD Video Tutorial

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Management Guidelines

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.

Clinical Trials & Research for this Disease

  • ClinicalTrials.gov lists trials that are studying or have studied Pseudoxanthoma elasticum. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.
Other Names for this Disease
  • PXE
  • Gronblad Strandberg syndrome
  • Gronblad-Strandberg-Touraine syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.