Definitions for pseudoxanthoma elasticum
This page provides all possible meanings and translations of the word pseudoxanthoma elasticum
Pseudoxanthoma elasticum, also known as Grönblad–Strandberg syndrome, is a genetic disease that causes fragmentation and mineralization of elastic fibers in some tissues. The most common problems arise in the skin and eyes, and later in blood vessels in the form of premature atherosclerosis. PXE is caused by autosomal recessive mutations in the ABCC6 gene on the short arm of chromosome 16.
U.S. National Library of Medicine
An inherited disorder of connective tissue with extensive degeneration and calcification of ELASTIC TISSUE primarily in the skin, eye, and vasculature. At least two forms exist, autosomal recessive and autosomal dominant. This disorder is caused by mutations of one of the ATP-BINDING CASSETTE TRANSPORTERS. Patients are predisposed to MYOCARDIAL INFARCTION and GASTROINTESTINAL HEMORRHAGE.
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"pseudoxanthoma elasticum." Definitions.net. STANDS4 LLC, 2014. Web. 22 Dec. 2014. <http://www.definitions.net/definition/pseudoxanthoma elasticum>.