Pseudoxanthoma elasticum

Common Name(s)

Pseudoxanthoma elasticum, Pseudoxanthoma Elasticum (PXE)

Pseudoxanthoma elasticum, PXE, is an inherited disorder that causes select elastic tissue in the body to become mineralized, that is, calcium and other minerals are deposited in the tissue. This can result in changes in the skin, eyes, and rarely the cardiovascular system and gastrointestinal systems. PXE was recognized more than a hundred years ago. A number of significant advances have been made in the past few years.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Pseudoxanthoma elasticum" for support, advocacy or research.

PXE International, Inc.

PXE International initiates, conducts and funds research on pseudoxanthoma elasticum (PXE), educates clinicians and supports affected individuals.

Last Updated: 9 May 2014

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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Pseudoxanthoma elasticum" for support, advocacy or research.

PXE International, Inc.

PXE International initiates, conducts and funds research on pseudoxanthoma elasticum (PXE), educates clinicians and supports affected individuals.

www.pxe.org

Last Updated: 9 May 2014

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General Support Organizations

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General Resources

General Bulletin

General information for affected individuals and their providers

Updated 18 Nov 2012

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Pseudoxanthoma elasticum" returned 136 free, full-text research articles on human participants. First 3 results:

An atypical case of choroidal neovascularization associated with pseudoxanthoma elasticum treated with intravitreal bevacizumab: a case report.
 

Author(s): Michael Karampelas, Vasileios Soumplis, Dimitrios Karagiannis, Efstratios Parikakis, Andrew R Webster

Journal:

 

Pseudoxanthoma elasticum is an inherited disorder that is associated with accumulation of pathologic elastic fibers in the skin, vascular walls and Bruch's membrane in the eye. Choroidal neovascularization is one of the most common causes of acute vision loss in these patients. We ...

Last Updated: 19 Dec 2013

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ABCC6 prevents ectopic mineralization seen in pseudoxanthoma elasticum by inducing cellular nucleotide release.
 

Author(s): Robert S Jansen, Aslı Küçükosmanoglu, Marcel de Haas, Sunny Sapthu, Jon Andoni Otero, Ilse E M Hegman, Arthur A B Bergen, Theo G M F Gorgels, P Borst, Koen van de Wetering

Journal: Proc. Natl. Acad. Sci. U.S.A.. 2013 Dec;110(50):20206-11.

 

Pseudoxanthoma elasticum (PXE) is an autosomal recessive disease characterized by progressive ectopic mineralization of the skin, eyes, and arteries, for which no effective treatment exists. PXE is caused by inactivating mutations in the gene encoding ATP-binding cassette sub-family ...

Last Updated: 11 Dec 2013

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Pseudoxanthoma elasticum: cardiac findings in patients and Abcc6-deficient mouse model.
 

Author(s): Fabrice Prunier, Gwenola Terrien, Yannick Le Corre, Ailea L Y Apana, Loïc Bière, Gilles Kauffenstein, Alain Furber, Arthur A B Bergen, Theo G M F Gorgels, Olivier Le Saux, Georges Leftheriotis, Ludovic Martin

Journal:

 

Pseudoxanthoma elasticum (PXE), caused by mutations in the ABCC6 gene, is a rare multiorgan disease characterized by the mineralization and fragmentation of elastic fibers in connective tissue. Cardiac complications reportedly associated with PXE are mainly based on case reports.

Last Updated: 12 Aug 2013

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Pseudoxanthoma elasticum" returned 9 free, full-text review articles on human participants. First 3 results:

Last Updated: 16 Nov 2012

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Pseudoxanthoma elasticum: progress in diagnostics and research towards treatment : Summary of the 2010 PXE International Research Meeting.
 

Author(s): Jouni Uitto, Lionel Bercovitch, Sharon F Terry, Patrick F Terry

Journal: Am. J. Med. Genet. A. 2011 Jul;155A(7):1517-26.

 

Pseudoxanthoma elasticum (PXE), a prototypic heritable disorder with ectopic mineralization, manifests with characteristic skin findings, ocular involvement, and cardiovascular problems. The classic forms of PXE are due to loss-of-function mutations in the ABCC6 gene, which encodes ...

Last Updated: 23 Jun 2011

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ABCC6 as a target in pseudoxanthoma elasticum.
 

Author(s): András Váradi, Zalán Szabó, Viola Pomozi, Hugues de Boussac, Krisztina Fülöp, Tamás Arányi

Journal: Curr Drug Targets. 2011 May;12(5):671-82.

 

The ABCC6 gene encodes an organic anion transporter protein, ABCC6/MRP6. Mutations in the gene cause a rare, recessive genetic disease, pseudoxanthoma elasticum, while the loss of one ABCC6 allele is a genetic risk factor in coronary artery disease. We review here the information ...

Last Updated: 7 Apr 2011

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Characterization of Pseudoxanthoma Elasticum
 

Status: Recruiting

Condition Summary: Pseudoxanthoma Elasticum

 

Last Updated: 8 Apr 2014

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Arterial Wall Calcium Load in Pseudoxanthoma Elasticum
 

Status: Recruiting

Condition Summary: Pseudoxanthoma Elasticum; Type 2 Diabetes; Chronic Kidney Disease

 

Last Updated: 20 Nov 2012

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Phenotypic Expressions in a French Pseudoxanthoma-Elasticum Cohort
 

Status: Recruiting

Condition Summary: Pseudoxanthoma Elasticum

 

Last Updated: 3 Oct 2011

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