Two cases of pseudoxanthoma elasticum with renal involvement

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 corticomedullary...

Pseudoxanthoma elasticum: report of two cases*

Pseudoxanthoma elasticum is a rare inherited multisystem disorder that is characterized by a pathological mineralization of the elastic connective tissue, which involves predominantly the skin, eyes and cardiovascular system. Its cause lies on mutations in the ABCC6 gene, which lead to reduction or absence of the transmembrane transport ADP dependent protein (MRP6), causing an accumulation of e...

Pseudoxanthoma Elasticum: A Report of Three Cases in a Family

Pseudoxanthoma Elasticum is an inherited disorder characterized by generalized fragmentation and progressive calcification of the elastic tissues in the dermis, blood vessels and Bruch’s membrane of the eye. Herein, we report 3 patients in a family with pseudoxanthoma elasticum: a father and his two sons.

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