Pseudoxanthoma elasticum

Pseudoxanthoma elasticum (PXE ), also Grönblad - beach mountain syndrome, is an autosomal dominant or recessive inherited disease in which the elastic fibers of the connective tissue are altered by the inclusion of mineral salts ( calcium). The fibers are brittle and break up into short fragments. There will be changes in the skin, blood vessels, cardiovascular system and gastrointestinal tract. Due to bleeding into the retina results in a loss of central vision. The disease course is very different. Not every individual has all the symptoms. Therefore, the diagnosis is often problematic and there are certainly a large number of undetected cases. Scientists estimate the number of people affected nationwide to about 1000. Clinically usually occur in young adulthood yellowish, flat, usually symmetrical papules on the lateral neck and the bend of the large joints on. Similar changes are also found in the fundus (so-called angioid streaks ) may blindness can result. The prognosis is largely determined by the cardiovascular changes.