Pseudoxanthoma Elasticum and Mitral-Valve Prolapse

PSEUDOXANTHOMA elasticum is 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 autosomal dominant types and two autosomal recessive 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 papules and plaques on the skin of flexural areas, which may result in redundant skin folds (Fig. 1). Other findings include.