Pseudoxanthoma Elasticum: A Report of Three Cases in a Family

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...

Cerebral small vessel disease in pseudoxanthoma elasticum: three cases.

BACKGROUND Cerebral small vessel disease is rarely described in association with pseudoxanthoma elasticum (PXE), a hereditary connective tissue disorder with skin, eye and vascular manifestations. This autosomally inherited elastic tissue disease has been attributed to mutations in the ABCC6 gene located on chromosome 16p13.1. Different stroke mechanisms are suggested in PXE patients, arterial ...

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

Lipoid proteinosis: Report of three cases in one family

Lipoid proteinosis, a rare autosomal recessive disorder, presents in early childhood with hoarseness, skin infiltration and thickening, beaded papules on eyelid margins, and facial acneiform or pock- like scars. Although