This disease is important to recognize early, in order to minimize the occurrence of retinal or gastrointestinal hemorrhage and cardiovascular complications. Pseudoxanthoma elasticum commonly involves the skin, Bruch's membrane of the eye and blood vessels. Cases of involvement of the endocardium and pericardium of the heart, urinary tract and pulmonary tissue have also been reported. The disease shows various patterns of inheritance, with two autosomal dominant forms and two autosomal recessive forms reported. The cutaneous manifestations of PXE are of cosmetic concern.
Patients typically have a normal life span.
The mortality and morbidity of PXE vary based on the extent of extracutaneous involvement. Ocular involvement with retinal hemorrhages can lead to the progressive loss of central vision. Peripheral vision is always spared. Involvement of the elastic media and intima of arteries can lead to claudication, hypertension, angina, myocardial infarction and gastrointestinal or cerebral hemorrhage. Cerebral and gastrointestinal hemorrhage or coronary occlusion, although uncommon, may be fatal.