Pseudoxantoma elástico perfurante periumbilical e periareolar

Bressan, Aline Lopes; Vasconcelos, Bárbara Nader; Silva, Roberto Souto da; Alves, Maria de Fátima Guimarães Scotelaro; Gripp, Alexandre Carlos

doi:10.1590/s0365-05962010000500018

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Cited by 8 publications

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“…Mucosal lesions of similar aspect can be observed in the oral, genital and gastrointestinal mucosae. 1,2,3,5 …”

Section: Discussionmentioning

confidence: 99%

Pseudoxanthoma elasticum: report of two cases

Marques¹,

Nakandakari²,

Coelho³

et al. 2014

An. Bras. Dermatol.

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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 extracellular material and subsequent deposition of calcium and other minerals in the elastic tissue. The authors report two cases of pseudoxanthoma elasticum, emphasizing its major clinical features and the importance of early diagnosis of the disorder, aiming for adequate therapeutic management of associated complications.

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“…Mucosal lesions of similar aspect can be observed in the oral, genital and gastrointestinal mucosae. 1,2,3,5 …”

Section: Discussionmentioning

confidence: 99%