Comet Lesions in Patients with Pseudoxanthoma Elasticum

Comet Lesions in Patients with Pseudoxanthoma Elasticum

Pseudoxanthoma elasticum (PXE) is a genetic multisystemic disorder affecting the skin, eyes and cardiovascular system. Basic fundoscopic findings in PXE result from Bruch's membrane involvement. The most important fundoscopic findings are angioid streaks. Other significant ocular findings are peau d'orange appearance, optic disc drusen, pattern dystrophy-like macular appearance, comet lesions, ...

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...

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

Arterial remodeling and stiffness in patients with pseudoxanthoma elasticum.

OBJECTIVE Proteoglycans organize the extracellular matrix, act as signaling molecules, and are involved in cell migration and proliferation. They may play an important role in arterial geometric and elastic properties. The aim of the present study was to determine large artery phenotype in patients with pseudoxanthoma elasticum (PXE), a genetic disease characterized by proteoglycan accumulation...