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.

Pseudoxanthoma Elasticum: Report of Two Cases

“…PXE is a genetic disorder of the connective tissue characterized by skin, ocular and vascular lesions [1,2]. Asymptomatic skin manifestations, which are often the first clinical signs of PXE, usually occur between the first and second decades of the patient's life [3].…”

“…Angioid streaks are characteristic, but not pathognomonic. In later stages of the disease, an ingrowth of fibrovascular tissue through the defect may occur, giving way to secondary CNV and subsequent development of a disciform scar with subretinal fibrosis and atrophy [1,2]. Secondary degenerative and hemorrhagic changes in the macula can frequently be found, leading to the severe reduction of visual acuity [1].…”

“…Because Bruch membrane breaks may cause CNV and these membranes may cause severe vision blurring when untreated. In the cardiovascular system, the calcification of artery walls of small and medium caliber is observed [1,2]. The patients of PXE can also develop premature atherosclerosis with early acute myocardial infarcts [2,3].…”

“…PXE is caused by mutations in the ABCC6 (ATP-binding cassette subfamily C member 6) gene [2]. Clinical manifestation occurs in skin, eyes, oral mucosa, gastrointestinal tract and the arteries [1]. We report two cases of PXE, emphasizing its main clinical aspects.…”

“…Background PXE is a multisystem disease with an autosomal dominant inheritance pattern in 90% of the cases, or autosomal recessive [1]. Females are more commonly affected than males [2].…”