Subarachnoid haemorrhage in pseudoxanthoma elasticum

Subarachnoid haemorrhage in pseudoxanthoma elasticum.

Introduction Pseudoxanthoma elasticum (PXE) is a rare heritable disorder of the connective tissue. Up to 1964, approximately 400 cases had been reported (Suerig and Siefert, 1964). The lesion involves mainly the skin, the eyes and the cardiovascular system, giving rise to diverse clinical manifestations. Most of the reports have highlighted the association of cutaneous changes with angioid stre...

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

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...