Results 81 to 90 of about 2,584 (187)

Arterial Calcification as a Pseudoxanthoma Elasticum-like Manifestation in Beta-Thalassemia: Molecular Mechanisms and Significance

Hemato
Thalassemia, once associated with limited survival, now sees extended life expectancy due to treatment advancements, but new complications such as pseudoxanthoma elasticum (PXE)-like syndrome are emerging.
Marialuisa Zedde, Rosario Pascarella
doaj   +1 more source

Pseudoxanthoma Elasticum of the Skin with Involvement of the Oral Cavity

Case Reports in Dentistry, 2013
Pseudoxanthoma elasticum (PXE) is an inherited multisystemic disease of elastic fibers that primarily affects the skin and retina. A case of primary PXE of the skin with late involvement of the upper lip is reported.
Flávia Sayuri Matsuo, Alceu Luiz Camargo Villela Berbert, Sônia Antunes de Oliveira Mantese, Adriano Mota Loyola, Sérgio Vitorino Cardoso, Paulo Rogério de Faria   +5 more
doaj   +1 more source

Pseudoxanthoma Elasticum and Cardiorenal Disease: A Case Report

European Journal of Case Reports in Internal Medicine, 2019
Pseudoxanthoma elasticum (PXE) is a rare genetic disorder characterized by calcification of elastic fibres, skin lesions, fundus lesions and systemic vascular complications.
Luis D'Marco, Carlos Soto, Fabiola Dapena   +2 more
doaj   +1 more source

Psudoxanthoma elasticum: An Unusual Case of Gastrointestinal Bleeding

Canadian Journal of Gastroenterology, 1989
Pseudoxanchoma elasticum (PXE) is an inherited disorder of connective tissue, characterized by calcification and degeneration of elastin. Clinical manifestations of PXE are protean, with skin, eyes and arteries being most commonly involved.
Deborah J. Cook, Samih S. Salama, Robert J. Tuttle   +2 more
doaj   +1 more source

Pseudoxanthoma elasticum (PXE): 15 casi clinici e follow up cardiologico [PDF]

, 2011
Pseudoxanthoma elasticum (PXE; synonym: Gronblad-Strandberg syndrome) is a rare, inherited, multisystem disorder primarily affecting the skin, eyes, and cardiovascular system.
Calvieri, Stefano, Divona, Luigina, Miraglia, Emanuele, Giustini , Sandra, Carbone, Antonio, Bruni, C., Strano, Stefano   +6 more
core   +1 more source

Generalized arterial calcification of infancy and pseudoxanthoma elasticum: two sides of the same coin

Frontiers in Genetics, 2012
Generalized arterial calcification of infancy (GACI) is associated with biallelic mutations in ENPP1 in the majority of cases, whereas mutations in ABCC6 are known to cause pseudoxanthoma elasticum (PXE).
Yvonne eNitschke, Frank eRutsch
doaj   +1 more source

The Purinergic Nature of Pseudoxanthoma Elasticum

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   +1 more source

Identification of heterozygote carriers in families with a recessive form of pseudoxanthoma elasticum (PXE)

, 1999
Skin biopsies of 18 healthy relatives of patients with pseudoxanthoma elasticum (PXE), belonging to six different recessive families, have been examined by optical and electron microscopy in order to determine morphologic alterations potentially useful ...
RONCHETTI, Ivonne, QUAGLINO, Daniela, BACCHELLI, Barbara, GHEDUZZI, Dealba, CD Boyd, BORALDI, Federica, TAPARELLI, Francesca, B. Trolli, O. Le Saux   +8 more
core  

Vitamin K reduces hypermineralisation in zebrafish models of PXE and GACI [PDF]

, 2015
The mineralisation disorder pseudoxanthoma elasticum (PXE) is associated with mutations in the transporter protein ABCC6. Patients with PXE suffer from calcified lesions in the skin, eyes and vasculature, and PXE is related to a more severe vascular ...
Schulte-Merker, Stefan, Mackay, Eirinn W., Mackay, Eirinn William, Apschner, Alexander   +3 more
core   +2 more sources

Bruch's Membrane Calcification in Pseudoxanthoma Elasticum

Ophthalmology Science
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   +1 more source