Neovascular Complications Revealing Anguloid Streaks in Pseudoxanthoma Elasticum

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

Angioid Streaks in Psuedoxanthoma Elasticum

Pseudoxanthoma elasticum (PXE) is a hereditary disorder that affects primarily the elastic tissues of skin, eyes and blood vessels. Its estimated prevalence is thought to be 1:25,000 100,000. PXE patients also carry an increased risk for cardiovascular and gastrointestinal diseases. Early diagnosis can play a crucial role in preventing early loss of vision and systemic complications in these pa...

Placental calcification in pseudoxanthoma elasticum.

INTRODUCTION Pseudoxanthoma elasticum (PXE) is an inherited multisystem disorder of the elastic tissue and the objective of this case report is to correlate ultrasonographic and histological appearances of placental calcification in PXE. CLINICAL PICTURE We report a case of a 37-year-old white woman with PXE, whose antenatal imaging showed a markedly echogenic placenta due to extensive calcif...

MR imaging in pseudoxanthoma elasticum.

Gri:inblad-Strandberg syndrome known as pseudoxanthoma elasticum (PXE) is a rare connective tissue disorder, the inheritance of which shows both autosomal and recessive characteristics [1]. The disease most commonly involves the skin , eyes , cardiovascular system, and gastrointestinal tract [2]. The vascular connective tissue supporting the retina, known as the Bruch membrane, tends to calcify...