Pseudoxanthoma elasticum: Progress in diagnostics and research towards treatment

Research Progress in Pseudoxanthoma Elasticum and Related Ectopic Mineralization Disorders

Heritable ectopic mineralization disorders represent a phenotypically diverse group of conditions characterized by deposition of calcium phosphate complexes in soft connective tissues. The prototype of such conditions is pseudoxanthoma elasticum, and related conditions with overlapping clinical features include generalized arterial calcification of infancy and arterial calcification due to CD73...

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 Treatment with Fractional CO2 Laser

SUMMARY Pseudoxanthoma elasticum (PE) is a rare genetic disease characterized by calcification and fragmentation of elastic fibers of the skin, retina, and cardiovascular system. We report a case of PE in which fractional carbon dioxide laser treatment was successfully used to achieve improvement of the cervical skin with 2-year follow-up, in a patient with Fitzpatrick skin type IV. After the f...

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...