Results 11 to 20 of about 6,809 (242)

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

Anti-VEGF-therapy for pseudoxanthoma elasticum (case reports) [PDF]

Клиническая офтальмология, 2023
A.D. Chuprov, S.M. Kim, E.A. Pidodniy, A.M. Iserkepova Orenburg Branch of the S. Fyodorov Eye Microsurgery Federal State Institution, Orenburg, Russian Federation Pseudoxanthoma elasticum (PXE), also known as Gröenblad-Strandberg syndrome,
A.D. Chuprov, S.M. Kim, E.A. Pidodniy, A.M. Iserkepova   +3 more
doaj   +1 more source

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

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

Dermatology Research and Practice, 2010
PXE-PDE is a rare clinicopathological entity with few cases reported. It affects more often elderly women and is characterized by asymptomatic bilateral and symmetrical yellowish papules localized predominantly on the neck and supraclavicular regions. It
Rubina Alves, Lurdes Ferreira, Esmeralda Vale, Olívia Bordalo   +3 more
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

Comet Lesions in Patients with Pseudoxanthoma Elasticum

Türk Oftalmoloji Dergisi, 2015
Pseudoxanthoma elasticum (PXE) is a genetic multisystemic disorder affecting the skin, eyes and cardiovascular system. Basic fundoscopic findings in PXE result from Bruch’s membrane involvement.
Sinan Tatlıpınar, Berna Şahan, Muhsin Altunsoy   +2 more
doaj   +2 more sources

Pseudoxanthoma elasticum, ocular manifestations, complications and treatment

Australasian journal of optometry, The, 2011
Pseudoxanthoma elasticum (PXE), also known as Groenblad syndrome, is an inherited disorder characterised by mineralisation and fragmentation of elastic fibres in a number of organs including the skin, eyes and arterial blood vessels.
Ilias Georgalas, Ioannis Ladas
exaly   +1 more source

[Pseudoxanthoma elasticum]

Ugeskrift for laeger, 2010
During childhood two women developed yellowish xanthoma-like papules on the neck. After dermatological examination and skin biopsy, the diagnosis pseudoxanthoma elasticum (PXE) was made. PXE is a hereditary metabolic disease which has an early onset with
List-Jensen, Kamille, Åbom, Anne, Bygum, Anette; id_orcid   +2 more
core   +4 more sources

Abcc6 Knockout Rat Model Highlights the Role of Liver in PPi Homeostasis in Pseudoxanthoma Elasticum

Journal of Investigative Dermatology, 2017
Pseudoxanthoma elasticum, a heritable ectopic mineralization disorder, is caused by mutations in the ABCC6 gene primarily expressed in the liver and the kidneys.
Qiaoli Li, Koen Van De Wetering, John P Sundberg   +2 more
exaly   +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