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 repor… Show more
“…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].…”
Section: Discussionmentioning
confidence: 99%
“…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].…”
Section: Discussionmentioning
confidence: 99%
“…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].…”
Section: Discussionmentioning
confidence: 99%
“…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.…”
mentioning
confidence: 98%
“…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].…”
“…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].…”
Section: Discussionmentioning
confidence: 99%
“…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].…”
Section: Discussionmentioning
confidence: 99%
“…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].…”
Section: Discussionmentioning
confidence: 99%
“…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.…”
mentioning
confidence: 98%
“…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].…”
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