Pseudoxanthoma elasticum

Pseudoxanthoma elasticum
Other namesGrönblad–Strandberg syndrome; Groenblad-Strandberg syndrome
Pseudoxanthoma elasticum of the posterior lateral neck. Note the yellowish slightly raised bumps characteristic of this condition.
SpecialtyMedical genetics 

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. PXE is caused by autosomal recessive mutations in the ABCC6 gene on the short arm of chromosome 16 (16p13.1).

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