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Pseudoxanthoma elasticum
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Overview
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]
References
- Terry SF, Bercovitch L. Pseudoxanthoma Elasticum. GeneReviews. http://www.ncbi.nlm.nih.gov/books/NBK1113/. Accessed August 12, 2011.
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On this page
General Information
- Genetics Home Reference (GHR) contains information on Pseudoxanthoma elasticum. Click on the link to go to GHR and review the information.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Pseudoxanthoma elasticum. Click on the link to view a sample search on this topic.
- A description of PXE including its signs, effects and medical care can be found in the PXE International's General Bulletin.
- The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Pseudoxanthoma elasticum. Click on the link to go to OMIM and review these resources.