Pseudoxanthoma Elasticum

Pseudoxanthoma elasticum is a genetic disorder caued by mutations in the ATP-binding cassette sub-family C member 6 gene (ABCC6) and is characterized by lax skin and retinal hemorrhages. Discover the latest research on pseudoxanthoma elasticum here.

January 15, 2022
Case Report
Open Access

Penicillamine-induced elastosis perforans serpiginosa and pseudo-pseudoxanthoma elasticum.

International Journal of Women's Dermatology
Lauren E HeusinkveldJennifer Lucas
December 25, 2021
Review
Open Access

Therapy of Pseudoxanthoma Elasticum: Current Knowledge and Future Perspectives.

Biomedicines
Max Jonathan StumpfChristian Alexander Schaefer
December 21, 2021
Open Access

Kidney Stones are Prevalent in Individuals with Pseudoxanthoma Elasticum, a Genetic Ectopic Mineralization Disorder.

International Journal of Dermatology and Venereology
Douglas RalphQiaoli Li
December 16, 2021

Genetic heterogeneity of heritable ectopic mineralization disorders in a large international cohort.

Genetics in Medicine : Official Journal of the American College of Medical Genetics
Amir Hossein SaeidianQiaoli Li
December 5, 2021

The complexity of visual dysfunction in patients with pseudoxanthoma elasticum.

Eye
Peter Charbel Issa, Kristina Hess
November 20, 2021
Preprint
Open Access

Abcc6 null mice a model for mineralization disorder PXE show vertebral osteopenia without enhanced intervertebral disc calcification with aging

BioRxiv : the Preprint Server for Biology
P. BoneskiMakarand Risbud
November 18, 2021

Pseudoxanthoma Elasticum With Cutis Laxa-Like Features.

JAMA Dermatology
Meredith Gaufin, Michael A Cardis
November 18, 2021

Pseudoxanthoma Elasticum.

JAMA Dermatology
Gabrielle BrokampEsteban Fernandez Faith
November 11, 2021
Case Report

Connecting the Dots of a Rare Connective Tissue Disease: Pseudoxanthoma Elasticum.

Curēus
Ashley L YeniorRichard J Presutti
November 11, 2021

Oral supplementation of inorganic pyrophosphate in pseudoxanthoma elasticum.

Experimental Dermatology
Eszter KozákViola Pomozi
November 8, 2021

Minocycline Attenuates Excessive DNA Damage Response and Reduces Ectopic Calcification in Pseudoxanthoma Elasticum.

The Journal of Investigative Dermatology
Lukas NolletOlivier Vanakker
November 5, 2021

Dilatated submucosal vessels in the gastric fundus of a patient with pseudoxanthoma elasticum.

Gastrointestinal Endoscopy
Ryo OgawaTaro Takami
October 24, 2021
Case Report
Open Access

A Case Report of Pseudoxanthoma Elasticum with Rare Sequence Variants in Genes Related to Inherited Retinal Diseases.

Diagnostics
Francesco Demetrio LofaroFederica Boraldi
October 22, 2021

Inner retinal degeneration associated with optic nerve head drusen in pseudoxanthoma elasticum.

The British Journal of Ophthalmology
Kristina HessMaximilian Pfau
October 15, 2021
Case Report
Open Access

Minimally invasive surgical aortic valve replacement in setting of pseudoxanthoma elasticum.

JTCVS Techniques
Devon AndersonElaine E Tseng
September 25, 2021

Pulsatility Attenuation along the Carotid Siphon in Pseudoxanthoma Elasticum.

AJNR. American Journal of Neuroradiology
Jonas W BartstraJ J M Zwanenburg

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