Familial Pseudoxanthoma Elasticum and Valvular Heart Disease

Familial pseudoxanthoma elasticum and valvular heart disease.

PSEUDOXANTHOMA ELASTICUM has been described as a systemic disease that affects the skin, the eyes, and the blood vessels. That it may directly involve the heart and cause significant valvular disease is not so well known. Histologic changes in the endocardium and heart valves have been described'-" but valvular heart disease has not been a clinical problem in these cases. After studying the fol...

Pseudoxanthoma elasticum

Pseudoxanthoma elasticum (PXE) is a genetic metabolic disease with autosomal recessive inheritance caused by mutations in the ABCC6 gene. The lack of functional ABCC6 protein leads to ectopic mineralization that is most apparent in the elastic tissues of the skin, eyes and blood vessels. The clinical prevalence of PXE has been estimated at between 1 per 100,000 and 1 per 25,000, with slight fem...

Pseudoxanthoma elasticum

Pseudoxanthoma Elasticum – Also a Lung Disease? The Respiratory Affection of Patients with Pseudoxanthoma Elasticum

BACKGROUND Pseudoxanthoma elasticum (PXE) is an autosomal-recessive mineralisation disorder caused by loss of function mutations in the ABCC6 Gen. Histological findings and data of an autopsy of a PXE-patient suggest a possible pulmonal calcification. So far, there exists no clinical data whether PXE patients actually are at high risk of developing pulmonary disorder. METHODS In a cross-secti...

Genetic basis of familial valvular heart disease.