Pseudoxanthoma Elasticum with Renal Cortical Calcification

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...

Two cases of pseudoxanthoma elasticum with renal involvement

  Abstract   Pseudoxanthoma elasticum is a rare, hereditary, multisystemic disease affecting   the skin, eye, and cardiovascular system. Renal involvement is uncommon.   We describe two cases of pseudoxanthoma elasticum (PXE) in two women with   distinctive skin lesions and nephrocalcinosis that renal ultrasonography showed a   characteristic pattern of dotted increased echogenicity in the cort...

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

Two cases of pseudoxanthoma elasticum with renal involvement

Pseudoxanthoma elasticum is a rare, hereditary, multisystemic disease affecting the skin, eye, and cardiovascular system. Renal involvement is uncommon. We describe two cases of pseudoxanthoma elasticum (PXE) in two women with distinctive skin lesions and nephrocalcinosis that renal ultrasonography showed a characteristic pattern of dotted increased echogenicity in the corticomedullary junction...