PXE is associated with dystrophic mineralization of connective tissues and affects multiple organs including the skin, eyes and cardiovascular system. The specific clinical findings include lax and inelastic skin, angioid streaks of the retina, and mineralization of the mid-laminar layer of blood vessels of the gastrointestinal tract and cardiovascular system. Onset is often in late childhood or adolescence when yellowish cutaneous papules are noted, most commonly, on the neck, axillae and antecubital fossae. However, in many cases the initial physical finding is retinal angioid streaks corresponding with breaks in the elastin-rich Bruch’s membrane of the choroids. As the disease progresses, fragile new vessels may grow through the angioid streaks and hemorrhage, resulting in central vision loss. Affects on the cardiovascular system may include hypertension, intermittent claudication, gastrointestinal bleeding, and rarely myocardial infarction. Mineralization of elastic structures, the hallmark of PXE, results from altered function of the multidrug resistance associated protein 6 (MRP6), the protein encoded by the ATP-binding cassette family C member 6 (ABCC6) gene.