Health Encyclopedia

 

 

Pseudoxanthoma Elasticum (PXE)

National Organization for Rare Disorders, Inc.

Important

It is possible that the main title of the report Pseudoxanthoma Elasticum (PXE) is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

Synonyms

  • Gronblad-Strandberg syndrome
  • elastosis dystrophica syndrome (obsolete)
  • systemic elastorrhexis (obsolete)

Disorder Subdivisions

  • None

General Discussion

Pseudoxanthoma elasticum, PXE, is an inherited disorder caused y mutations in the ABCC6 transporter gene that affects connective tissue in some parts of the body. Elastic tissue in the body becomes mineralized; that is, calcium and other minerals are deposited in the tissue. This can result in changes in the skin, eyes, cardiovascular system, and gastrointestinal system. Clinicians first recognized PXE more than 100 years ago. Researchers have made a number of significant advances in the past few years.

Resources

National Association for Pseudoxanthoma Elasticum

8760 Manchester Road

St. Louis, MO 63144-2724

USA

Tel: (314)962-0100

Fax: (314)962-0100

Email: NAPEStLouis@sbcglobal.net

Internet: http://www.pxenape.org/



NIH/National Institute of Arthritis and Musculoskeletal and Skin Diseases

Information Clearinghouse

One AMS Circle

Bethesda, MD 20892-3675

USA

Tel: (301)495-4484

Fax: (301)718-6366

Tel: (877)226-4267

TDD: (301)565-2966

Email: NIAMSinfo@mail.nih.gov

Internet: http://www.niams.nih.gov/



NIH/National Eye Institute

31 Center Dr

MSC 2510

Bethesda, MD 20892-2510

United States

Tel: (301)496-5248

Fax: (301)402-1065

Email: 2020@nei.nih.gov

Internet: http://www.nei.nih.gov/



NIH/National Heart, Lung and Blood Institute

P.O. Box 30105

Bethesda, MD 20892-0105

Tel: (301)592-8573

Fax: (301)251-1223

Email: nhlbiinfo@rover.nhlbi.nih.gov

Internet: http://www.nhlbi.nih.gov/



Coalition for Heritable Disorders of Connective Tissue (CHDCT)

4301 Connecticut Avenue, NW Suite 404

Washington, DC 20008

Tel: (202)362-9599

Fax: (202)966-8553

Tel: (800)778-7171

Email: chdct@pxe.org

Internet: http://www.chdct2.org/



PXE International, Inc.

4301 Connecticut Ave NW

Suite 404

Washington, DC 20008-2304

USA

Tel: (202)362-9599

Fax: (202)966-8553

Email: info@pxe.org

Internet: http://www.pxe.org



MD Support - The Eyes of the Macular Degeneration Community

3600 Blue Ridge Blvd

Grandview, MO 64030

USA

Tel: (816)761-7080

Fax: (816)761-7080

Email: director@mdsupport.org

Internet: http://www.mdsupport.org



Genetic and Rare Diseases (GARD) Information Center

PO Box 8126

Gaithersburg, MD 20898-8126

Tel: (301)251-4925

Fax: (301)251-4911

Tel: (888)205-2311

TDD: (888)205-3223

Internet: http://rarediseases.info.nih.gov/GARD/



Madisons Foundation

PO Box 241956

Los Angeles, CA 90024

Tel: (310)264-0826

Fax: (310)264-4766

Email: getinfo@madisonsfoundation.org

Internet: http://www.madisonsfoundation.org



For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to MyD-H, the Dartmouth-Hitchcock patient portal. You must be a registered MyD-H user for the Lebanon, Manchester, or Nashua locations to access this site.

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.

It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report

This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org

Last Updated:  3/12/2012

Copyright  1986, 1988, 1990, 1991, 1997, 1998, 1999, 2000, 2009, 2012 National Organization for Rare Disorders, Inc.

This information does not replace the advice of a doctor. Healthwise, Incorporated disclaims any warranty or liability for your use of this information. Your use of this information means that you agree to the Terms of Use. How this information was developed to help you make better health decisions.

Healthwise, Healthwise for every health decision, and the Healthwise logo are trademarks of Healthwise, Incorporated.