Pseudoxanthoma elasticum

Pseudoxanthoma elasticum is a genetic disease that causes mineralization of elastic fibers in some tissues. It is a hereditary connective tissue disorder resulting from autosomal recessive mutations in the ABCC6 gene on chromosome 16, requiring two defective gene copies to develop the disease. It predominantly affects the skin through yellowish papular lesions, the eyes through retinal calcification and vision problems, and blood vessels through premature atherosclerosis and cardiovascular complications, arising from reduced pyrophosphate levels that normally inhibit mineralization in peripheral tissues.