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Pseudoxanthoma elasticum [PDF]

Autopsy and Case Reports, 2017
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 that is most apparent in the elastic tissues of
Bruna Morassi Sasso, Maria Letícia Cintra, Elemir Macedo de Souza   +2 more
doaj   +9 more sources

Bruch's Membrane Calcification in Pseudoxanthoma Elasticum [PDF]

Ophthalmology Science, 2023
Purpose: To investigate the histology of Bruch’s membrane (BM) calcification in pseudoxanthoma elasticum (PXE) and correlate this to clinical retinal imaging. Design: Experimental study with clinicopathological correlation.
Sara Risseeuw, MD, PhD, Matthew G. Pilgrim, PhD, Sergio Bertazzo, PhD, Connor N. Brown, PhD, Lajos Csincsik, PhD, Sarah Fearn, PhD, Richard B. Thompson, PhD, Arthur A. Bergen, PhD, Jacoline B. ten Brink, BAS, Elod Kortvely, PhD, Wilko Spiering, MD, PhD, Jeannette Ossewaarde–van Norel, MD, PhD, Redmer van Leeuwen, MD, PhD, Imre Lengyel, PhD   +13 more
doaj   +3 more sources

The PROPHECI trial: a phase II, double-blind, placebo-controlled, randomized clinical trial for the treatment of pseudoxanthoma elasticum with oral pyrophosphate [PDF]

Trials
Background /aims. Pseudoxanthoma Elasticum (PXE, OMIM 264800) is an autosomal, recessive, metabolic disorder characterized by progressive ectopic calcification in the skin, the vasculature and Bruch’s membrane.
Laetitia Clotaire, Isabelle Rubera, Christophe Duranton, Jocelyn Gal, Emmanuel Chamorey, Hélène Humeau, Samir Yamani, Christine Chiaverini, Serge Willoteaux, Bernard Padovani, Laurie Mourozeau, Adam Mainguy, Stéphanie Baillif, Ludovic Martin, Georges Leftheriotis   +14 more
doaj   +3 more sources

The Purinergic Nature of Pseudoxanthoma Elasticum [PDF]

Biology
Pseudoxanthoma Elasticum (PXE) is an inherited disease characterized by elastic fiber calcification in the eyes, the skin and the cardiovascular system. PXE results from mutations in ABCC6 that encodes an ABC transporter primarily expressed in the liver ...
Gilles Kauffenstein, Ludovic Martin, Olivier Le Saux   +2 more
doaj   +3 more sources

Pseudoxanthoma elasticum - Genetics, pathophysiology, and clinical presentation. [PDF]

Prog Retin Eye Res
Pseudoxanthoma elasticum (PXE) is an autosomal-recessively inherited multisystem disease. Mutations in the ABCC6-gene are causative, coding for a transmembrane transporter mainly expressed in hepatocytes, which promotes the efflux of adenosine ...
Pfau K, Lengyel I, Ossewaarde-van Norel J, van Leeuwen R, Risseeuw S, Leftheriotis G, Scholl HPN, Feltgen N, Holz FG, Pfau M.   +9 more
europepmc   +2 more sources

Pseudoxanthoma Elasticum With Detailed Analyses of Coronary Artery Disease [PDF]

JACC: Case Reports, 2023
A 60-year-old woman with pseudoxanthoma elasticum (PXE) underwent thorough coronary artery disease assessments. Intravascular imaging tests suggested fragmented and calcified elastic fibers in the internal elastic lamina, suggesting a possible ...
Tomohiro Fujisaki, MD, Masanobu Ishii, MD, PhD, MPH, Bengo Atari, MD, PhD, Tomoyo Matsumura, MD, PhD, Kenichi Tsujita, MD, PhD   +4 more
doaj   +2 more sources

Managing Choroidal Neovascularization in Pseudoxanthoma Elasticum: Outcomes of Vitrectomy and Intravitreal Ranibizumab/Aflibercept Therapy-A Case Report. [PDF]

Case Rep Ophthalmol Med
Background: Pseudoxanthoma elasticum (PXE) is a systemic disorder that affects the skin, eyes, and vascular system. It commonly presents with retinal angioid streaks (ASs) and can lead to vision loss due to subretinal neovascularizations and macular atrophy.
Yamashita K, Hashizume K, Fukuda Y, Sato R, Ozawa N, Kubono H, Kawamura M, Suzuki K.   +7 more
europepmc   +2 more sources

Increased Intracranial Arterial Pulsatility and Microvascular Brain Damage in Pseudoxanthoma Elasticum. [PDF]

AJNR Am J Neuroradiol
BACKGROUND AND PURPOSE: Carotid siphon calcification might contribute to the high prevalence of cerebrovascular disease in pseudoxanthoma elasticum through increased arterial flow pulsatility.
Bartstra JW, van den Beukel T, Kranenburg G, Geurts LJ, den Harder AM, Witkamp T, Wolterink JM, Zwanenburg JJM, van Valen E, Koek HL, Mali WPTM, de Jong PA, Hendrikse J, Spiering W.   +13 more
europepmc   +2 more sources

Pseudoxanthoma Elasticum-Like Papillary Dermal Elastolysis (PXE-PDE) in an Elderly Female: A Rare Diagnostic Entity [PDF]

Clinical, Cosmetic and Investigational Dermatology
Naif Alshehri,1 Reem Alsergani,1 Abdulrahman Alqerafi,1,2 Sadan Mohammed al Harbi,3 Ahmed Alhumidi,4 Mohammed A Alfada1 1Department of Dermatology, College of Medicine, King Saud University, Riyadh, Saudi Arabia; 2Dermatology and Dermatological Surgery ...
Alshehri N, Alsergani R, Alqerafi A, al Harbi SM, Alhumidi A, Alfada MA   +5 more
doaj   +2 more sources

Periumbilical perforating pseudoxanthoma elasticum [PDF]

JAAD Case Reports
Ana L. Duarte-Summers, MD, Anna Chen, MD, Morgan E. Sussman-McCrea, MD, Shayan Waseh, MD, MPH, Jason B. Lee, MD, Sylvia Hsu, MD   +5 more
doaj   +2 more sources