The skin has characteristic changes of several types due to defective elastin. It is often lax and redundant with localized plaques of hyperkeratotic papules giving the typical 'plucked chicken' appearance. The latter are typically seen in the skin of the neck, in inguinal folds and in the popliteal and antecubital spaces. These may have their onset in childhood but sometimes later. They are generally asymptomatic and primarily of cosmetic importance. The oral, rectal, and vaginal mucosa may also be involved. Focal deposits of calcium are often seen.
Vascular disease secondary to calcification of elastic media and intima are responsible for the major health problems in this disease but they usually are not evident until later in life. Hemorrhage or occlusion often results. At least 10% of individuals with this disease experience a gastrointestinal hemorrhage at some point in their lives and this can be life-threatening. Intermittent claudication can be incapacitating. Coronary artery disease is frequently a symptom. Occlusive disease of the renal arteries can result in hypertension. Malfunction of heart valves, especially the mitral valve, is common.