Pseudoxanthoma elasticum
Recessive genetic disease / From Wikipedia, the free encyclopedia
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Pseudoxanthoma elasticum (PXE) is a genetic disease that causes 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.[2][3][4] PXE is caused by autosomal recessive mutations in the ABCC6 gene on the short arm of chromosome 16 (16p13.1).[3][5][6]
Quick Facts Other names, Specialty ...
Pseudoxanthoma elasticum | |
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Other names | Grönblad–Strandberg syndrome;[1] Groenblad-Strandberg syndrome |
Pseudoxanthoma elasticum of the posterior lateral neck. Note the yellowish slightly raised bumps characteristic of this condition. | |
Specialty | Medical genetics |
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