pseudoxanthoma elasticum

pseudoxanthoma elasticum A disorder that is characterized by deposition of calcium and other minerals in elastic fibers. It can affect elastic fibers in the skin, eyes, and blood vessels, and less frequently other areas. Abbreviated PXE. PXE is inherited in an autosomal recessive manner and is due to mutations in the ABCC6 gene on chromosome 16. Symptoms include small yellow-white raised areas in the skin folds on the neck, armpits, and other areas. A physician may see abnormalities in the back of the eye called angioid streaks, tiny breaks in the elastin-filled tissue that can lead to blindness. Impairment of blood vessels in the legs can lead to pains in the legs while walking (claudication).