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Pseudoxanthoma Elasticum (PXE)
National Organization for Rare Disorders, Inc.
- Gronblad-Strandberg syndrome
- elastosis dystrophica syndrome (obsolete)
- systemic elastorrhexis (obsolete)
- PXE, recessive type
- PXE, dominant type
Pseudoxanthoma elasticum, PXE, is an inherited disorder that affects selected 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.
National Association for Pseudoxanthoma Elasticum
8760 Manchester Road
St. Louis, MO 63144-2724
NIH/National Institute of Arthritis and Musculoskeletal and Skin Diseases
One AMS Circle
Bethesda, MD 20892-3675
NIH/National Eye Institute
31 Center Dr
Bethesda, MD 20892-2510
NIH/National Heart, Lung and Blood Institute
P.O. Box 30105
Bethesda, MD 20892-0105
Coalition for Heritable Disorders of Connective Tissue (CHDCT)
4301 Connecticut Avenue, NW Suite 404
Washington, DC 20008
PXE International, Inc.
4301 Connecticut Ave NW
Washington, DC 20008-2304
MUMS National Parent-to-Parent Network
150 Custer Court
Green Bay, WI 54301-1243
MD Support - The Eyes of the Macular Degeneration Community
3600 Blue Ridge Blvd
Grandview, MO 64030
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
PO Box 241956
Los Angeles, CA 90024
For a Complete Report
This is an abstract of a report from the National Organization for Rare Disorders, Inc.® (NORD). Cigna members can access the complete report by logging into myCigna.com. For non-Cigna members, a copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html.
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 email@example.com
Last Updated: 3/5/2009
Copyright 1986, 1988, 1990, 1991, 1997, 1998, 1999, 2000, 2009 National Organization for Rare Disorders, Inc.