Pseudoxanthoma elasticum: report of two cases

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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...

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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.

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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...

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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...

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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...

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ژورنال

عنوان ژورنال: Anais Brasileiros de Dermatologia

سال: 2014

ISSN: 0365-0596

DOI: 10.1590/abd1806-4841.20143144