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