Results 1 to 10 of about 2,649 (127)

Nonfamilial Pseudoxanthoma Elasticum: A Case Report With Review of Selected Literature. [PDF]

Clin Case Rep
ABSTRACT A 44‐year‐old woman with classic cutaneous manifestations of nonfamilial PXE presented with multiple 3 to 10 mm yellowish papules coalescing into well‐demarcated, cobblestone‐like plaques. Previous ophthalmologic evaluation revealed retinal angioid streaks, while no cardiovascular involvement was reported.
Peniche-Luna E, Uriarte-Ruiz K, Pérez-Nieto JE, Briseño-Gascón G, Vega-Memije ME, Guzmán-Bucio S.   +5 more
europepmc   +2 more sources

Severe Hypertension and Hematologic Abnormalities in Pseudoxanthoma Elasticum: A Pediatric Case Report. [PDF]

J Clin Hypertens (Greenwich)
ABSTRACT Pseudoxanthoma elasticum (PXE) is a rare autosomal recessive disorder caused by pathogenic variants in ABCC6, leading to progressive calcification of elastic fibers. Although PXE typically presents in adolescence with dermatologic or ocular manifestations, early vascular involvement, including pediatric hypertension, is increasingly recognized.
Flogelova H, Pospisilova D, Bakaj-Zbrozkova L, Sochorcova L, Manakova J, Kriegova E, Koralkova P, Hlusickova Kapralova K, Horvathova M.   +8 more
europepmc   +2 more sources

Pseudoxanthoma Elasticum-Like Papillary Dermal Elastolysis: A Case Report [PDF]

Clinical, Cosmetic and Investigational Dermatology
Junhong Ye,1 Xianxu Yang,1 Wen Lv,2 Tianming Ma31Department of Dermatology, Hainan Fifth People’s Hospital, Haikou, Hainan, People’s Republic of China; 2Department of Allergy, Hainan Fifth People’s Hospital, Haikou, Hainan, People’s Republic of China ...
Ye J, Yang X, Lv W, Ma T
doaj   +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

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   +2 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   +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

Bruch's Membrane Calcification in Pseudoxanthoma Elasticum [PDF]

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   +2 more sources

Pseudoxanthoma elasticum-like papillary dermal elastolysis in non-exposed skin, [PDF]

Anais Brasileiros de Dermatologia, 2020
Pseudoxanthoma elasticum-like papillary dermal elastolysis is an acquired elastic tissue disorder clinically similar to pseudoxanthoma elasticum in the absence of systemic involvement.
Nuria Setó-Torrent, Maribel Iglesias-Sancho, Jorge Arandes-Marcocci, María Teresa Fernández-Figueras   +3 more
doaj   +1 more source

Heterozygous ABCC6 mutation in a patient with sickle cell disease: Pseudoxanthoma elasticum or pseudoxanthoma elasticum-like phenotype? [PDF]

JAAD Case Reports
José Cuesta Camuñas, MD, Bianca C. Rodríguez Martínez, MD, Fabiola Pabón-González, MD, Melanie Medina-Figueroa, MD, MBA, Rafael Martin, MD   +4 more
doaj   +2 more sources