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 143 free, full-text research articles on human participants. First 3 results:

Efficiency of exome sequencing for the molecular diagnosis of pseudoxanthoma elasticum.
 

Author(s): Mohammad J Hosen, Filip Van Nieuwerburgh, Wouter Steyaert, Dieter Deforce, Ludovic Martin, Georges Leftheriotis, Anne De Paepe, Paul J Coucke, Olivier M Vanakker

Journal: J. Invest. Dermatol.. 2015 Apr;135(4):992-8.

 

The molecular etiology of pseudoxanthoma elasticum (PXE), an autosomal recessive connective tissue disorder, has become increasingly complex as not only mutations in ATP-binding cassette family C member 6 (ABCC6) but also ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) ...

Last Updated: 19 Mar 2015

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Pseudoxanthoma elasticum: report of two cases.
 

Author(s): Gabriela Franco Marques, Sadamitsu Nakandakari, Ana Paula Cota Pinto Coelho, Maria Helena Mazzi Freire Nigro, Josmar Sabage

Journal: An Bras Dermatol. ;89(5):812-5.

 

Pseudoxanthoma elasticum is a rare inherited multisystem disorder that is characterized by a pathological mineralization of the elastic connective tissue, which involves predominantly the skin, eyes and cardiovascular system. Its cause lies on mutations in the ABCC6 gene, which lead ...

Last Updated: 4 Sep 2014

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Zebrafish enpp1 mutants exhibit pathological mineralization, mimicking features of generalized arterial calcification of infancy (GACI) and pseudoxanthoma elasticum (PXE).
 

Author(s): Alexander Apschner, Leonie F A Huitema, Bas Ponsioen, Josi Peterson-Maduro, Stefan Schulte-Merker

Journal: Dis Model Mech. 2014 Jul;7(7):811-22.

 

In recent years it has become clear that, mechanistically, biomineralization is a process that has to be actively inhibited as a default state. This inhibition must be released in a rigidly controlled manner in order for mineralization to occur in skeletal elements and teeth. A central ...

Last Updated: 29 Jun 2014

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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 10 free, full-text review articles on human participants. First 3 results:

Renal artery aneurysm formation secondary to pseudoxanthoma elasticum.
 

Author(s): Lyn Zimmo, Nung Rudarakanchana, Mary Thompson, Mohamad S Hamady, Nicholas J W Cheshire, Colin D Bicknell

Journal: J. Vasc. Surg.. 2013 Mar;57(3):842-4.

 

This report describes a patient with pseudoxanthoma elasticum (PXE) who presented with an incidental finding of a renal artery aneurysm. PXE is a rare genetic condition. It is associated with calcification of elastin fibers and is characterized by skin, eye, and cardiovascular complications. ...

Last Updated: 28 Feb 2013

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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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Clinical Trial Information This information is provided by ClinicalTrials.gov

Intravitreal Aflibercept for Therapy of Patients With Pseudoxanthoma Elasticum (PXE)
 

Status: Not yet recruiting

Condition Summary: Pseudoxanthoma Elasticum

 

Last Updated: 27 Aug 2015

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Characterization of Pseudoxanthoma Elasticum
 

Status: Recruiting

Condition Summary: Pseudoxanthoma Elasticum

 

Last Updated: 8 Apr 2014

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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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