| Literature DB >> 25184925 |
Gabriela Franco Marques, Sadamitsu Nakandakari, Ana Paula Cota Pinto Coelho, Maria Helena Mazzi Freire Nigro, Josmar Sabage.
Abstract
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.Entities:
Mesh:
Year: 2014 PMID: 25184925 PMCID: PMC4155964 DOI: 10.1590/abd1806-4841.20143144
Source DB: PubMed Journal: An Bras Dermatol ISSN: 0365-0596 Impact factor: 1.896