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

"Comet-tail" lesions of pseudoxanthoma elasticum.
 

Author(s): Vinod Kumar

Journal: Indian J Ophthalmol. 2018 Feb;66(2):300.

 

Last Updated: 31 Dec 1969

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A case of pseudoxanthoma elasticum with proliferative diabetic retinopathy.
 

Author(s): Keigo Kakurai, Maiko Hayashi, Kanako Yamada, Norihiko Ishizaki, Yumiko Yonemoto, Seita Morishita, Ryohsuke Kohmoto, Takaki Sato, Teruyo Kida, Tsunehiko Ikeda

Journal:

 

To report the case of a patient with pseudoxanthoma elasticum (PXE) and proliferative diabetic retinopathy (PDR), and discuss the relationship between PXE and diabetic retinopathy (DR).

Last Updated: 31 Dec 1969

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Ultrastructural aspects of pseudoxanthoma elasticum.
 

Author(s): Hiram Larangeira de Almeida, Mariana Geber de Almeida, Valéria Magalhães Jorge, Luciana Boff de Abreu

Journal: An Bras Dermatol. ;92(4):527-530.

 

We report the ultrastructural findings in a case of a 72-year-old black woman with confluent yellowish papules in the cervical region. She had no comorbidities. Ophthalmological examination, electrocardiogram, and echocardiogram were normal. Hematoxylin-eosin staining of the affected ...

Last Updated: 31 Dec 1969

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

ABCC6 and Pseudoxanthoma Elasticum: The Face of a Rare Disease from Genetics to Advocacy.
 

Author(s): Karobi Moitra, Sonia Garcia, Michelle Jaldin, Clementine Etoundi, Donna Cooper, Anna Roland, Patrice Dixon, Sandra Reyes, Sevilay Turan, Sharon Terry, Michael Dean

Journal:

 

Pseudoxanthoma elasticum (PXE) is an autosomal recessive disorder characterized by the mineralization of connective tissues in the body. Primary manifestation of PXE occurs in the tissues of the skin, eyes, and cardiovascular system. PXE is primarily caused by mutations in the gene. ...

Last Updated: 31 Dec 1969

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Pseudoxanthoma elasticum.
 

Author(s): Dominique P Germain

Journal:

 

Pseudoxanthoma elasticum (PXE) is a genetic metabolic disease with autosomal recessive inheritance caused by mutations in the ABCC6 gene. The lack of functional ABCC6 protein leads to ectopic mineralization that is most apparent in the elastic tissues of the skin, eyes and blood vessels. ...

Last Updated: 31 Dec 1969

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Research Progress in Pseudoxanthoma Elasticum and Related Ectopic Mineralization Disorders.
 

Author(s): Qiaoli Li, Tamás Arányi, András Váradi, Sharon F Terry, Jouni Uitto

Journal: J. Invest. Dermatol.. 2016 Mar;136(3):550-6.

 

Heritable ectopic mineralization disorders represent a phenotypically diverse group of conditions characterized by deposition of calcium phosphate complexes in soft connective tissues. The prototype of such conditions is pseudoxanthoma elasticum, and related conditions with overlapping ...

Last Updated: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Phenotypic Expressions in a French Pseudoxanthoma-Elasticum Cohort
 

Status: Recruiting

Condition Summary: Pseudoxanthoma Elasticum

 

Last Updated: 3 Oct 2011

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Biological Collection of Kidney Cells
 

Status: Not yet recruiting

Condition Summary: Pseudoxanthoma Elasticum

 

Last Updated: 5 Dec 2017

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Study of People With Generalized Arterial Calcification of Infancy (GACI) or Autosomal Recessive Hypophosphatemic Rickets Type 2 (ARHR2)
 

Status: Recruiting

Condition Summary: Generalized Arterial Calcification of Infancy; Autosomal Recessive Hypophosphatemic Rickets Type 2

 

Last Updated: 14 Aug 2018

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