Occult Pseudoxanthoma Elasticum in Patients with Premature Cardiovascular Disease

Abstract

Pseudoxanthoma elasticum is an inherited disorder of connective tissue that is associated with numerous systemic manifestations, including premature coronary artery disease. Without a serologic marker, the diagnosis relies on clinical features and the histologic demonstration of abnormal, calcified elastic fibers1,2. The typical patient presents with yellow macules or papules that can become confluent to form plaques and, in severe cases, redundant folds of skin. Cutaneous lesions have been likened to “plucked chicken skin.” In patients whose skin is mildly affected, the condition may be difficult to recognize. Ocular complications occasionally occur without the characteristic skin lesions. The histologic… © 1993, Massachusetts Medical Society. All rights reserved.