Cerebral involvement in pseudoxanthoma elasticum; case report

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: 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

Pseudoxanthoma Elasticum Papillary Dermal Elastolysis: A Case Report

PXE-PDE is a rare clinicopathological entity with few cases reported. It affects more often elderly women and is characterized by asymptomatic bilateral and symmetrical yellowish papules localized predominantly on the neck and supraclavicular regions. It is clinically similar to Pseudoxanthoma Elasticum. The authors report a case of a 64-year-old woman presenting asymptomatic, yellowish, non-fo...