What are the clinical features of pseudoxanthoma elasticum?
Pseudoxanthoma elasticum is an AR disease that involves degeneration and calcification of elastic fibers in the eyes, skin, and arteries. The molecular defect is mutations of the ABCC6 gene on chromosome 16 that codes for a membrane transporter protein. Xanthomatoid papules occur in flexural skinfolds. A skin biopsy demonstrates calcified elastic fibers in the skin. Angioid streaks occur in the fundus owing to a break in Bruch’s membrane. Visual loss may occur from a maculopathy and retinal lesions. Cerebrovascular complications include narrowing and occlusion of cerebral arteries and aneurysm formation. Arterial rupture can occur leading to intracranial hemorrhage in the absence of aneurysm and gastrointestinal hemorrhage. Aortic aneurysm and dissection can occur. Peripheral arterial vascular disease can lead to intermittent leg claudication. Joints can be hypermobile. Patients commonly die of coronary artery fibrosis and calcification.
