Pseudoxanthoma Elasticum and Mitral-Valve Prolapse

PSEUDOXANTHOMA elasticumis an inherited disorder of connective tissue, with cutaneous, ophthalmologic, and systemic manifestations. The disease has an estimated prevalence of one in 160,000.1 Various modes of inheritance have been demonstrated, including two autosomaldominant types and two autosomalrecessive types.2 The pathogenesis of the disorder is controversial; most investigators attribute the disease to a basic defect in elastic tissue, although others have supported an older theory involving collagen degeneration. The most characteristic clinical manifestations are yellowish, grouped papulesand plaques on the skin of flexural areas, which may result in redundant skin folds(Fig. 1). Other findings include . . .