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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How do you compare to others with this condition?

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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

View Details

 

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

Next-generation sequencing for mutation detection in heritable skin diseases: the paradigm of pseudoxanthoma elasticum.
 

Author(s): Andrew P South, Qiaoli Li, Jouni Uitto

Journal: J. Invest. Dermatol.. 2015 Apr;135(4):937-40.

 

Next-generation sequencing applied either to the entire genome or to a subset, such as a whole exome, has revolutionized the search for pathogenic mutations in heritable diseases, including genodermatoses. In this issue, Hosen et al. applied whole-exome sequencing to identify potential ...

Last Updated: 19 Mar 2015

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Genetic heterogeneity of pseudoxanthoma elasticum: the Chinese signature profile of ABCC6 and ENPP1 mutations.
 

Author(s): Liang Jin, Qiujie Jiang, Zhengsheng Wu, Changxia Shao, Yong Zhou, Luting Yang, Jouni Uitto, Gang Wang

Journal: J. Invest. Dermatol.. 2015 May;135(5):1294-302.

 

Pseudoxanthoma elasticum (PXE), an autosomal recessive disorder characterized by ectopic mineralization, is caused by mutations in the ABCC6 gene. We examined clinically 29 Chinese PXE patients from unrelated families, so far the largest cohort of Asian PXE patients. In a subset of ...

Last Updated: 17 Apr 2015

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Successful long-term management of choroidal neovascularization secondary to angioid streaks in a patient with pseudoxanthoma elasticum: a case report.
 

Author(s): Maria Cristina Savastano, Angelo Maria Minnella, Gaetano Zinzanella, Benedetto Falsini, Aldo Caporossi

Journal:

 

We describe the long-term effectiveness and tolerability of intravitreal vascular endothelial growth factor inhibitor ranibizumab in a patient with pseudoxanthoma elasticum with bilateral macular choroidal neovascularization secondary to angioid streaks.

Last Updated: 8 Jan 2015

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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 11 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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Symptoms, Diagnosis, and Treatment

There are currently no related results available in Genetics Home Reference.

 
 
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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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