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About 600 results

ALLMedicine™ Pseudoxanthoma Elasticum Center

Research & Reviews  225 results

Various vascular malformations are prevalent in Finnish pseudoxanthoma elasticum (PXE) ...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9077871
Orphanet Journal of Rare Diseases; Pelttari S, Väärämäki S et. al.

May 8th, 2022 - Pseudoxanthoma elasticum (PXE, OMIM# 264800) is an inborn error of metabolism causing ectopic soft tissue calcification due to low plasma pyrophosphate concentration. We aimed to assess the prevalence of PXE in Finland and to characterize the Finn...

ENPP1 variants in patients with GACI and PXE expand the clinical and genetic heterogene...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9089899
PLoS Genetics; Ralph D, Nitschke Y et. al.

Apr 29th, 2022 - Pseudoxanthoma elasticum (PXE) and generalized arterial calcification of infancy (GACI) are clinically distinct genetic entities of ectopic calcification associated with differentially reduced circulating levels of inorganic pyrophosphate (PPi), a...

Intracranial atherosclerosis in pseudoxanthoma elasticum: A case-control study.
https://doi.org/10.1016/j.atherosclerosis.2022.04.014
Atherosclerosis Lucci C, van den Beukel TC et. al.

Apr 26th, 2022 - Pseudoxanthoma elasticum (PXE) is a genetic disorder characterized by systemic calcification of elastin fibers. Additionally, PXE is associated with an increased risk of stroke. It has been hypothesized that this may be caused by accelerated (intr...

Cutaneous vascular calcification. Perieccrine calcification as a diagnostic key for cal...
https://doi.org/10.1111/cup.14234
Journal of Cutaneous Pathology; Reolid A, Martínez-Palazuelo M et. al.

Apr 1st, 2022 - Attempts have been made to establish discriminative criteria between classic calciphylaxis (CPX) and those cases in which cutaneous vascular calcification (CVC) represents an incidental finding (epiphenomenon). Retrospective, observational cohort ...

Commentary on Variants in the ABCC6 Gene Implicated in Pseudoxanthoma Elasticum, a Heri...
https://doi.org/10.1016/j.jid.2022.02.008
The Journal of Investigative Dermatology; Zheng A, Thibodeau PH

Mar 26th, 2022 - Significant progress has been made in understanding pseudoxanthoma elasticum (PXE), which results from mutations in ABCC6. The low prevalence of PXE and its heterotypic presentation confound genotype-phenotype correlations and the characterization...

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Clinicaltrials.gov  9 results

Employment of Patients With Pseudoxanthoma Elasticum
https://clinicaltrials.gov/ct2/show/NCT05246189

Feb 18th, 2022 - This is an epidemiological, descriptive and analytical, cross-sectional, monocentric study, carried out by telephone questionnaire on the national cohort of the PXE Reference Center in the Dermatology Department of the Angers University Hospital. ...

PyROphosPHate Supplementation to Fight ECtopIc Calcification in PseudoXanthoma Elasticum
https://clinicaltrials.gov/ct2/show/NCT04868578

Jul 22nd, 2021 - Pseudoxanthoma elasticum (PXE) is a rare inherited metabolic disorder (OMIM 264800, frequency 1/25000) characterized by progressive ectopic calcification of connective tissues. PXE mainly affects the skin (unsighting skin folds and papules), the r...

PIC and Its Role in Progression of Pathological Myopia
https://clinicaltrials.gov/ct2/show/NCT04561869

Jun 18th, 2021 - Myopia The frequency of myopia and high myopia are growing on a worldwide for causes that not cleared. Myopia is vision challenges due to rises the risk of pathologic ophthalmic changes such as cataract, glaucoma, retinal detachment, and myopic ma...

Magnesium Supplements In The Treatment Of Pseudoxanthoma Elasticum (PXE)
https://clinicaltrials.gov/ct2/show/NCT01525875

Mar 10th, 2021 - Pseudoxanthoma elasticum (PXE) is a systemic connective tissue disorder involving elastic fiber calcification and fragmentation with major clinical manifestations occurring in the cutaneous, ocular and cardiovascular systems. Calcification of the ...

Intravitreal Aflibercept for Therapy of Patients With Pseudoxanthoma Elasticum (PXE)
https://clinicaltrials.gov/ct2/show/NCT02537054

May 7th, 2019 - The purpose of this study is to determine whether Aflibercept (Eylea) is effective in the treatment of choroidal neovascularization and fibrovascular proliferation in patients with pseudoxanthoma elasticum (PXE) in terms of preservation or improve...

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News  6 results

Rapidly Growing Retroauricular Tumor
https://www.mdedge.com/dermatology/article/205586/dermatopathology/rapidly-growing-retroauricular-tumor?channel=113
Carlos Palma Ducommun, MD, Perla Calderon Herschman, MD et. al.

Jul 30th, 2019 - The Diagnosis: Milia En Plaque Biopsy results revealed a normal epidermis; the dermis showed multiple small cystic structures lined by a stratified squamous epithelium containing eosinophilic keratin surrounded by a mononuclear cell infiltrate and.

Agminated Papules on the Neck
https://www.mdedge.com/dermatology/article/174488/agminated-papules-neck
Andrew Daugherty, MD, Jonathan S. Glass, MD et. al.

Sep 11th, 2018 - The Diagnosis: Pseudoxanthoma Elasticum Histopathology showed abnormal curled frayed elastic fibers in the mid dermis (Figure, A); von Kossa stain was positive for calcified and fragmented elastic fibers (Figure, B). Based on clinical and histolog.

Disseminated Superficial Actinic Porokeratosis Treated With Ingenol Mebutate Gel 0.05%
https://www.mdedge.com/dermatology/article/135353/actinic-keratosis/disseminated-superficial-actinic-porokeratosis-treated
Isabella Anderson, Ethan T. Routt, MD et. al.

Apr 7th, 2017 - Disseminated superficial actinic porokeratosis (DSAP) is a chronic condition characterized by numerous atrophic papules and patches with a distinctive peripheral keratotic ridge, typically found on sun-exposed areas. 1,2 Treatment of DSAP is warran.

Late-Onset Focal Dermal Elastosis: A Case Report and Review of the Literature
https://www.mdedge.com/dermatology/article/67938/late-onset-focal-dermal-elastosis-case-report-and-review-literature
Higgins HJ, Whitworth MW

Late-onset focal dermal elastosis is a condition characterized by a localized increase in healthy-appearing elastic tissue in the mid and deep reticular dermis. The condition may clinically mimic pseudoxanthoma elasticum (PXE) and linear focal ela.

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