title: Pseudoxanthoma elasticum: report of two cases.
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.
authors.forename: Gabriela Franco
authors.initials: GF
authors.lastname: Marques
authors.forename: Sadamitsu
authors.initials: S
authors.lastname: Nakandakari
authors.forename: Ana Paula Cota Pinto
authors.initials: AP
authors.lastname: Coelho
authors.forename: Maria Helena Mazzi Freire
authors.initials: MH
authors.lastname: Nigro
authors.forename: Josmar
authors.initials: J
authors.lastname: Sabage
mesh_terms: D042241:Early Diagnosis; D005260:Female; D005451:Fluorescein Angiography; D006801:Humans; D008875:Middle Aged; D011561:Pseudoxanthoma Elasticum / Q000473:pathology*; D012160:Retina / Q000473:pathology; D012867:Skin / Q000473:pathology