In this condition the skin around the armpit (axilla), the antecubital fossa, behind the knee (popliteal fossa), the neck, and other areas becomes lax with character¬istic yellowish papules. Examination of the retina with the ophthalmoscope may reveal angioid streaks. Life-threatening gastrointestinal hemorrhage is common.
The most important cardiac lesion involves the coronary arteries, which develop a form of arteriosclerosis that may cause coronary artery occlusion resulting in myocardial infarction. Other associated cardiovascular disorders include thickened aortic and mitral valves, mitral valve prolapse, and hypertension.
The recessive and dominant forms of this disorder have been mapped to the same region of chromosome 16. Management includes control of hypertension and risk factors for atherosclerosis. Dietary calcium intake should be restricted including consumption of dairy products and avoidance of calcium supplements because of a positive association between severity of the disease and dietary calcium intake.