What causes pseudoxanthoma elasticum defect ?
PSEUDOXANTHOMA ELASTICUM : 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 mutation in the ABCC6 gene on the short arm of chromosome 16. Pseudoxanthoma elasticum (PXE) is a systemic disorder that affects the elastic tissue of the skin, the eye, and vascular system. Individuals most commonly present with angioid streaks of the retina found on routine eye examination or associated with retinal hemorrhage and/or characteristic papules in the skin. The most frequent cause of morbidity and disability in PXE is reduced vision due to complications of subretinal neovascularizations and macular atrophy. Other manifestations include premature gastrointestinal angina and/or bleeding, intermittent claudi...