| Abstract: | Pseudoxanthoma elasticum is a rare inherited multisystem disorder that ischaracterized by a pathological mineralization of the elastic connective tissue,which involves predominantly the skin, eyes and cardiovascular system. Its cause lieson mutations in the ABCC6 gene, which lead to reduction or absence of thetransmembrane transport ADP dependent protein (MRP6), causing an accumulation ofextracellular material and subsequent deposition of calcium and other minerals in theelastic tissue. The authors report two cases of pseudoxanthoma elasticum, emphasizingits major clinical features and the importance of early diagnosis of the disorder,aiming for adequate therapeutic management of associated complications. |
