Pseudoxanthoma elasticum
Pseudoxanthoma elasticum
... Pseudoxanthoma elasticum (PXE) is a genetic metabolic disease with autosomal recessive inheritance caused by mutations in the ABCC6 gene. The lack of functional ABCC6 protein leads to ectopic mineralization ...
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Perturbation of specific pro-mineralizing signalling pathways in human and murine pseudoxanthoma elasticum
... Pseudoxanthoma elasticum (PXE; OMIM # 264800) is an autosomal recessive systemic connective tissue disease af- fecting the extracellular matrix (ECM) of multiple organs ...
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An atypical case of choroidal neovascularization associated with pseudoxanthoma elasticum treated with intravitreal bevacizumab: a case report
... Conclusions: Traditionally, fluorescein angiography is effective in the detection of choroidal neovascularization in patients with pseudoxanthoma elasticum. In our case, optical coherence tomography ...
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A case of pseudoxanthoma elasticum with proliferative diabetic retinopathy
... Pseudoxanthoma elasticum (PXE) is a genetic disorder characterized by calcification of elastic fibers, skin le- sions, fundus lesions, and systemic vascular complica- tions including coronary artery ...
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Optical Coherence Tomography Angiography for Choroidal Neovascularization and Subretinal Fibrosis in Pseudoxanthoma Elasticum
... A 58-year-old woman presented with Pseudoxanthoma elasticum (PXE) complicated by choroidal neovascularization (CNV) in the right eye. Fundus examination found indirect signs of CNV associated with peau ...
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Optical coherence tomography angiography findings of choroidal neovascularization in pseudoxanthoma elasticum
... PXE: pseudoxanthoma elasticum; CNV: choroidal neo‑ vascularization; OCTA: optical coherence tomography angiography; BrM: Bruch’s membrane; OD: oculus dexter (right eye); OS: oculus sinister (left eye); ...
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Successful long term management of choroidal neovascularization secondary to angioid streaks in a patient with pseudoxanthoma elasticum: a case report
... Case presentation: A 54-year-old Caucasian man with history of heart disease presented with visual loss in his right eye. An examination revealed choroidal neovascularization and reduced visual acuity, while no ...
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The amount of calcifications in pseudoxanthoma elasticum patients is underestimated in computed tomographic imaging; a post-mortem correlation of histological and computed tomographic findings in two cases
... In conclusion, autopsy of two PXE patients revealed degenerated and calcified elastic fibres and calcifications in skin, heart and arteries, but also in between the subcutaneous fat tiss[r] ...
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The relative impact of vision impairment and cardiovascular disease on quality of life: the example of pseudoxanthoma elasticum
... Further strengths include the use of Rasch analysis, an important step in modern scale validation, to assess the psychometric properties of the German IVI and SF-36, and to produce estim[r] ...
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Automated macular choroidal thickness measurement by swept-source optical coherence tomography in pseudoxanthoma elasticum
... Conclusions: The present study shows that choroidal thickness may be thinner in eyes with NV due to angioid streaks in PXE compared with healthy eyes analyzed by an automated segmenta[r] ...
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Cutaneous Manifestations of Sickle Cell Disease
... This article reviews the cutaneous manifestations of sickle cell disease including leg ulcers and acquired pseudoxanthoma elasticum.. Keywords: Sickle Cell Disease; Leg Ulcers; Pseudoxan[r] ...
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Vitamin K reduces hypermineralisation in zebrafish models of PXE and GACI
... Pseudoxanthoma elasticum [PXE; Online Mendelian Inheritance in Man (OMIM) #264800] is a congenital disorder which causes ectopic mineralisation of the eyes, skin and arterial walls, and, in most cases, is ...
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Angioid Streaks in Psuedoxanthoma Elasticum
... Pseudoxanthoma elasticum (PXE) is a hereditary disorder that affects primarily the elastic tissues of skin, eyes and the blood vessels [1]. In skin, this leads to yellowish papules which can coalesce into ...
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Improvements in the cervical angle and anthropometric distances using elasticum suspension
... The elasticum suspension significantly decreased the cervical angle (P < ...Conclusion: Elasticum suspension may be a satisfactory minimally invasive method for facelifts, brow lifts, and neck ...
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