Pseudoxanthoma elasticum: report of two cases
| Autor: | Gabriela Franco Marques, Sadamitsu Nakandakari, Ana Paula Cota Pinto Coelho, Maria Helena Mazzi Freire Nigro, Josmar Sabage |
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| Jazyk: | English<br />Portuguese |
| Rok vydání: | 2014 |
| Předmět: | |
| Zdroj: | Anais Brasileiros de Dermatologia, Vol 89, Iss 5, Pp 812-815 (2014) |
| Druh dokumentu: | article |
| ISSN: | 0365-0596 1806-4841 |
| DOI: | 10.1590/abd1806-4841.20143144 |
| Popis: | 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. |
| Databáze: | Directory of Open Access Journals |
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