1. PXE International, Inc. Explains the symptoms of pseudoxanthoma elasticum, a disorder of the connective tissue. Find out about treatments and support groups. http://www.pxe.org/

This site is sponsored entirely through contributions from donors like you. PXE International does not accept advertising. We subscribe to the HONcode principles. Verify here

2. NAPE, Inc. Research the disease, peruse various publications, and become a member of the National Association for pseudoxanthoma elasticum. support for people who have pseudoxanthoma elasticum (PXE). pseudoxanthoma elasticum, is an inherited disorder that http://www.napxe.org/

Home Current Article What is PXE? Contact NAPE ... Amsler Grid About NAPE Welcome to the NAP x E website. Nape is an organization committed to the support for people who have Pseudoxanthoma Elasticum (PXE). Pseudoxanthoma Elasticum, is an inherited disorder that affects the skin, the retina of the eyes and the cardiovascular system. NAPE is headquartered in St. Louis, Missouri. Everyone with PXE and those with an interest in PXE are encouraged to join this organization. Click here for more information. Basic PXE Information PXE was first described about 100 years ago. Initially it was believed to involve only the skin. The skin changes were thought to be cholesterol deposits called xanthomas that can occur in the skin of individuals with high blood cholesterol levels... (Click here for more) Click here for Questions of those who have PXE with Answers by medical doctors and other specifically qualified to respond.

3. PiXiE Supporting Sufferers Of Pseudoxanthoma Elasticum The pseudoxanthoma elasticum Support Group is a registered charity No 1055465 http://www.pxe.org.uk/

pxeeurope@aol.com Click The PXE Files Magazine To view the magazine you must have Adobe Acrobat Reader installed. If you have, just click on image. Founding PIXIE Elspeth Lax founded PiXiE in 1984 to support PXE sufferers and their families. Since then, she has become actively involved in promoting research into the disease and raising awareness among the medical community. Elspeth and her father with former President George Bush I was diagnosed as having PXE when I was 23 at my local hospital. However, when I was 26 I went for a second opinion and was told I would be blind by the time I was 40, my stomach would split open if I got pregnant and I had to leave the police force as it would be too dangerous a career in which to remain in case of head injury, in which case I could lose my vision straight away. Having felt suicidal, I wasn't going to let others with PXE suffer the same way I had. Eventually, we had to go back as we didn't want to miss our appointment but instead of going in to see the consultant separately, we went in together from then onwards. That way we would both hear all the details of the story.

4. Pseudoxanthoma Elasticum | Vhihealthe A definition of pseudoxanthoma elasticum followed by a description, causes and symptoms, diagnosis, treatment options, prognosis and prevention. http://www.vhihealthe.com/article/gale/100083930

You are here: Home Pseudoxanthoma elasticum Lica, Lorraine Definition Pseudoxanthoma elascticum (PXE) is an inherited connective tissue disorder in which the elastic fibers present in the skin, eyes, and cardiovascular system gradually become calcified and inelastic. Description The course of PXE varies greatly between individuals. Typically it is first noticed during adolescence as yellow-orange bumps on the side of the neck. Similar bumps may appear at other places where the skin bends a lot, like the backs of the knees and the insides of the elbows. The skin in these areas tends to get thick, leathery, inelastic, and acquire extra folds. These skin problems have no serious consequences, and for some people, the disease progresses no further. Bruch's membrane, a layer of elastic fibers in front of the retina, becomes calcified in some people with PXE. Calcification causes cracks in Bruch's membrane, which can be seen through an ophthalmoscope as red, brown, or gray streaks called angioid streaks. The cracks can eventually (e.g., in 10-20 years) cause bleeding, and the usual resultant scarring leads to central vision deterioration. However, peripheral vision is unaffected. Arterial walls and heart valves contain elastic fibers that can become calcified. This leads to a greater susceptibility to the conditions that are associated with hardening of the arteries in the normal aging population-high blood pressure, heart attack, stroke, and arterial obstruction-and, similarly, mitral valve prolapse. Heart disease and hypertension associated with PXE have been reported in children as young as four to 13 years of age. Although often appearing at a younger age, the overall incidence of these conditions is only slightly higher for people with PXE than it is in the general population.

5. PXE Pseudoxanthama Elasticum (PXE) To locate a genetic counselor or clinical geneticist Revised March 1, 2001 National Association for pseudoxanthoma elasticum, Inc. (N.A.P.E.) http://www.kumc.edu/gec/support/pxe.html

Pseudoxanthama Elasticum (PXE) PXE International, Inc. 4301 Connecticut Avenue, NW, Suite 404 Washington, D.C. 20008-2304 Phone: 781.784.3817 Fax: 781.784.6672 E-mail: pxe@pxe.org Web site: www.pxe.org National Association for Pseudoxanthoma Elasticum, Inc. (N.A.P.E.) 3500 East 12th Avenue Denver, CO 80206 Phone: 303.355.3866 Fax: 303.355.3859 E-mail: pxenape@estreet.com Web site: www.pxenape.org or www.napxe.org Also See: National organizations variety of resources Pseudoxanthoma elasticum , GeneReviews PXE Awareness in Australia newsletter Connective tissue disorders Pseudoxanthoma elasticum, Autosomal Recessive, Online Inheritance in Man (OMIM , Recessive Type II, (OMIM Pseudoxanthoma elasticum, Autosomal Dominant, Online Inheritance in Man (OMIM , Dominant Type II, OMIM To locate a genetic counselor or clinical geneticist: Professional Genetics Societies Genetic clinics, centers, departments Revised February 24, 2003 Genetic Societies Clinical Resources Labs Clinics ... Search Genetics Education Center Debra Collins, M.S. CGC

6. NORD - Pseudoxanthoma Elasticum Offers alternative names, a general discussion and resources for PXE. http://www.stepstn.com/cgi-win/nord.exe?proc=GetDocument&rectype=0&recnu

7. PXE And Pregnancy pseudoxanthoma elasticum (PXE) is a hereditary disorder which is characterized by1) yellowish papules and plaques in the skin of the neck and flexural areas http://www.pxe.org/virtpat/docs/preg.html

PXE and Pregnancy Lionel Bercovitch Clinical Associate Professor of Dermatology Brown University School of Medicine, Providence, RI Introduction Pseudoxanthoma elasticum (PXE) is a hereditary disorder which is characterized by: 1) yellowish papules and plaques in the skin of the neck and flexural areas ("pseudoxanthomas"), 2) angioid streaks in the retina, resulting from breaks in Bruch's membrane of the choroid, and 3) cardiovascular and gastrointestinal complications related to abnormal elastic tissue in arterial walls. Bulletins, available from PXE International, entitled "PXE and the Primary Care Physician" or "PXE and the Dermatologist" offer detailed information about the disease. The Effect of PXE on Pregnancy Since there is no published data on a large series of women affected with PXE, the true incidence of pregnancy-related complications is unknown. Berde et al (i) reviewed 24 pregnancies in nine women, published in five previous articles. In 20 pregnancies, five women accounted for eight instances of gastrointestinal hemorrhage due to abnormal blood vessels. Neldner (ii) reported that 54 women noted significant worsening of skin, eye, and cardiovascular manifestations during pregnancy, but detailed corroborating analysis of obstetrical records is not available. Viljoen et al (iii) did a retrospective analysis of 54 pregnancies in 20 South African women with PXE. In their series, no episodes of gastrointestinal hemorrhage were noted. Seven out of 54 patients were found to have hypertension and it was managed by traditional means (bed rest, diuretics, antihypertensives). No ocular or other cardiovascular problems were reported, but there appeared to be a slightly higher incidence of first-trimester miscarriage (12/54). Labor and vaginal deliver were uncomplicated. In this series as in previous reports, cosmetic worsening of abdominal skin laxity and striae appeared to be proportional to parity and weight gain during pregnancy (as one would expect even in non-PXE pregnancies). Flexural skin appears to remain stable.

8. PXE International, Inc. The comprehensive source for pseudoxanthoma elasticum research and world wide activities. http://pxe.org

This site is sponsored entirely through contributions from donors like you. PXE International does not accept advertising. We subscribe to the HONcode principles. Verify here

9. Pseudoxanthoma Elasticum (PXE) - Information For Patients Serwis Katalog w Wirtualna Polska S.A. pierwszy portal w Polsce. http://www.dermnetnz.org/pre/dna.pxe/pxe.html

Sponsors do not influence content Home About DermNet Search DermNet Contact us ... Worldwide links Pseudoxanthoma elasticum Pseudoxanthoma elasticum (PXE) is the name given to a group of connective tissue disorders that affects the elastic tissue of the skin, blood vessels, and the eyes. It is also known as Gronblad-Strandberg syndrome. Pseudoxanthoma elasticum The basic fault in PXE is unknown, but appears to relate to genetic abnormalities on chromosome 16p13.1. There is good evidence that, in affected individuals, collagen and ground substance are abnormal. Calcium then accumulates in abnormal elastic fibres in the skin, blood vessels, eyes and heart. It affects about 1 in every 160,000 people. There are a number of subtypes of PXE, each with a slightly different clinical presentation and pattern of inheritance. Two are inherited as an autosomal dominant characteristic; this means half the children of an affected individual are affected. Three types of PXE are autosomal recessive (1 in 4 children affected). Clinical features Individuals with PXE have distinctive skin lesions, eye abnormalities, and changes of blood vessels but these may vary in distribution and severity

10. The Family Village / Library / Pseudoxanthoma Elasticum (PXE) Library O P. pseudoxanthoma elasticum (PXE). Who to Contact. NationalAssociation for pseudoxanthoma elasticum (NAPE), Inc. 3500 http://www.familyvillage.wisc.edu/lib_pe.htm

Pseudoxanthoma Elasticum (PXE) Who to Contact Where to Go to Chat with Others Learn More About It Web Sites ... Search AltaVista for "Pseudoxanthoma Elasticum" Who to Contact National Association for Pseudoxanthoma Elasticum (NAPE), Inc. 3500 E. 12th Avenue Denver, Colorado, USA, 80206 Fax: (303) 355-3859 Lubbock E-mail: derckd@ttuhsc.edu Denver E-mail: pxenape@estreet.com Web: http://www.napxe.org/ NAPE strives to educate people who have PXE about their own disorder. Any questions that a member might heve is answered by physicians on their Medical Advisory Board. NAPE also serves as a national place where people can make a connection with others who have this disorder. NAPE publishes PXE Awareness, their newsletter four times a year and are currently printing a new brochure that tells about the disorder PXE. They are starting a national database for researchers. National Association for Pseudoxanthoma Elasticum [NAPE] Australia Del Gaddes c/o 30 Bassetts Lane RoseWood Q 4340 Austrailia Email: pxedel@gil.com.au

11. MyLifePath An in depth look at pseudoxanthoma elasticum. http://www.mylifepath.com/article/gale/100266386

12. Pseudoxanthoma Elasticum pseudoxanthoma elasticum. Mailing Lists. pseudoxanthoma elasticum A mailinglist for people interested in pseudoxanthoma elasticum. http://www.familyvillage.wisc.edu/lists/pseudo.htm

Pseudoxanthoma Elasticum Mailing Lists Pseudoxanthoma Elasticum A mailing list for people interested in Pseudoxanthoma Elasticum If you know of an on-line discussion group that should be added to the list, please send a note to Linda Rowley at: rowley@waisman.wisc.edu

13. PXE Links Angioid Streaks and pseudoxanthoma elasticumhttp//www.vrmny.com/angioid_ streaks_and_pxe.htm This site provides http://www.pxe.com/links.html

PXE Links More About PXE Gene Clinics: http://www.geneclinics.org/profiles/pxe Gene Clinics provides reliable and comprehensive information about various genetic disorders, including PXE. Online Mendelian Inheritance in Man (PXE entry): http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?264800 Online Mendelian Inheritance in Man (OMIM) is a database of human genes and genetic disorders written and maintained by medical professionals at Johns Hopkins and elsewhere, and developed for the Internet by the National Center for Biotechnology Information (NCBI). The information on this site is geared toward medical professionals. Clinical Trials and Genetic Testing ClinicalTrials.gov: http://clinicaltrials.gov/ct/gui/info/resources;jsessionid=958E565FD03D8F67BEA5D71A740054CA This site provides an overview of clinical trials as well as how and why to participate in clinical trials. MedlinePlus Health Information: http://www.nlm.nih.gov/medlineplus/clinicaltrials.html This site contains many links to sources of information about clinical trials. Understanding Gene Testing: http://www.accessexcellence.org/AE/AEPC/NIH/index.html

14. PiXiE Supporting Sufferers Of Pseudoxanthoma Elasticum Supporting sufferers of pseudoxanthoma elasticum. The PseudoxanthomaElasticum Support Group is a registered charity No 1055465. http://www.pxe.org.uk/pages/aboutpixie.htm

pxeeurope@aol.com Supporting sufferers of Pseudoxanthoma Elasticum The Pseudoxanthoma Elasticum (PXE) Support Group (PiXiE) is a non-profit making charitable trust, founded in 1984 by Elspeth Lax and run entirely by unpaid volunteers. The PXE support group aims to: help, encourage and assist those with PXE and their family members heighten the awareness of PXE amongst the medical community, support services and the general public link members with each other for mutual support and exchange of ideas provide information on the various aspects of PXE provide copies of our newsletter, "Pixie", containing medical articles and letters from members hold meetings to which all members, their families and friends are invited. You can join PiXiE by returning a Membership Application form. If you would like further information on PXE and the support group or would like to make a donation towards running costs, please contact: Elspeth Lax, 15 Mead Close, Marlow, Bucks, SL7 1HR, UK

15. Pseudoxanthoma Elasticum pseudoxanthoma elasticum /Angioid Streaks. National Association forpseudoxanthoma elasticum (NAPE). pseudoxanthoma elasticum (PXE http://www.lowvision.org/pseudoxanthoma_elasticum.htm

Pseudoxanthoma Elasticum /Angioid Streaks National Association for Pseudoxanthoma Elasticum (NAPE) Pseudoxanthoma elasticum (PXE)

16. Pseudoxanthoma Elasticum (PXE) 51 Ways to Be Good to Your Joints. pseudoxanthoma elasticum (PXE). For informationon pseudoxanthoma elasticum (PXE) contact PXE International, Inc. http://www.arthritis.org/conditions/DiseaseCenter/pxe.asp

Welcome! Log In Create Profile advanced search Español ... 51 Ways to Be Good to Your Joints Pseudoxanthoma Elasticum (PXE) For information on Pseudoxanthoma Elasticum (PXE) contact: PXE International, Inc. 4301 Connecticut Avenue, NW Suite 404 Washington, DC 20008-2304 Phone: 202-362-9599 Fax: 202-966-8553 E-mail: info@pxe.org Or visit their website at www.pxe.org Home About Us Contact Us ... Español

17. Pseudoxanthoma Elasticum pseudoxanthoma elasticum Joshua P. Fogelman Dermatology Online Journal 7(2) 16. Classificationof pseudoxanthoma elasticum report of a consensus conference. http://dermatology.cdlib.org/DOJvol7num2/nyu2/6/6.html

refs = new Array("References:","Lebwohl M, et al. Classification of pseudoxanthoma elasticum: report of a consensus conference. J Am Acad Dermatol 30:103, 1994 ", "Sherer DW, et al. Pseudoxanthoma elasticum: an update. Dermatology 199:3, 1999 ", "Cai L, et al. A 500-kb region on chromosome 16p13.1 contains the pseudoxanthoma elasticum locus: high-resolution mapping and genomic structure. J Mol Med 78:36, 2000 ", "Ringpfeil F, et al. Pseudoxanthoma elasticum: mutations in the MRP6 gene encoding a transmembrane ATP-binding cassette (ABC) transporter. Proc Natl Acad Sci (USA) 97:6001, 2000 "); DOJ Contents English Pseudoxanthoma elasticum Joshua P. Fogelman Dermatology Online Journal 7(2): 16 New York University Department of Dermatology History This 51-year-old man presented to the Charles C. Harris Skin and Cancer Pavilion for treatment of warts on the face. During the physical examination, yellow, indurated plaques with a peau d'orange surface were scattered on the arms. There were no lesions on the neck or torso. He denied pruritus, pain, or any symptoms at the sites. The patient was referred to an ophthalmologist. Past medical history includes end-stage renal failure of unknown etiology that required hemodialysis. He underwent a cadaveric renal transplantation that failed and was subsequently removed. Medications include prednisone 5 mg. every other day, hydroxychloroquine, simvastatin, famotidine, calcium acetate, erythropoietin, and calcitriol. He had no known drug allergies.

18. EMedicine - Pseudoxanthoma Elasticum : Article By L Frank Glass, MD pseudoxanthoma elasticum pseudoxanthoma elasticum (PXE) is an inherited connectivetissue disorder characterized by progressive calcification and http://www.emedicine.com/DERM/topic359.htm

(advertisement) Home Specialties CME PDA ... Patient Education Articles Images CME Patient Education Advanced Search Link to this site Back to: eMedicine Specialties Dermatology Diseases Of The Dermis Pseudoxanthoma Elasticum Last Updated: November 19, 2001 Rate this Article Email to a Colleague AUTHOR INFORMATION Section 1 of 9 Author Information Introduction Clinical Differentials ... Bibliography Author: L Frank Glass, MD , Chief of Dermatopathology, Associate Professor, Departments of Internal Medicine and Pathology, University of South Florida College of Medicine Coauthor(s): Daniel F Smith, MD , Staff Physician, Department of Internal Medicine, Division of Dermatology and Cutaneous Surgery, University of South Florida School of Medicine; Anu Gupta, MD , Staff Physician, Department of Internal Medicine, Division of Dermatology and Cutaneous Surgery, University of South Florida School of Medicine L Frank Glass, MD, is a member of the following medical societies: American Academy of Dermatology , and American Society of Dermatopathology Editor(s): Mark G Lebwohl, MD

19. EMedicine - Pseudoxanthoma Elasticum : Article By Diego Calonje, MD pseudoxanthoma elasticum pseudoxanthoma elasticum (PXE) is an inherited systemicdisease characterized by changes in the elastic tissue of the skin. http://www.emedicine.com/oph/topic475.htm

(advertisement) Home Specialties CME PDA ... Patient Education Articles Images CME Patient Education Advanced Search Link to this site Back to: eMedicine Specialties Ophthalmology Connective Tissue Disorders Pseudoxanthoma Elasticum Last Updated: May 18, 2001 Rate this Article Email to a Colleague Synonyms and related keywords: Grönblad-Strandberg syndrome AUTHOR INFORMATION Section 1 of 9 Author Information Introduction Clinical Differentials ... Bibliography Author: Diego Calonje, MD , Department of Ophthalmology Coauthor(s): Sherif M El-Harazi, MD, MPH , Consulting Staff, Department of Ophthalmology, Sherif El-Harazi, MD Editor(s): Vytautas A Pakainis, MD , Dorn Veterans Administration Medical Center, Professor of Ophthalmology, Department of Ophthalmology, University of South Carolina School of Medicine; Donald S Fong, MD, MPH , Assistant Clinical Professor of Ophthalmology, UCLA School of Medicine; Consulting Physician, Department of Ophthalmology, Southern California Permamente Medical Group; Steve Charles, MD

20. HON Mother & Child Glossary, Pseudoxanthoma Elasticum . Pseudoxanthoma......HON Mother Child Glossary, pseudoxanthoma elasticum. Pseudoxanthoma MusculoskeletalDisorders pseudoxanthoma elasticum. http://www.hon.ch/Dossier/MotherChild/child_musculoskeletal/muscoskel_pseudoxant

Introduction Reproduction Pregnancy During Pregnancy ... Glossary A-Z Childhood Illness Bacteria Virus Cancer Gastrointestinal ... Mental Health External survey "Questionnaire on mood" conducted by the "IMSP- Faculty of Medicine - University of Geneva" Musculoskeletal Disorders: Pseudoxanthoma Elasticum Description Pseudoxanthoma elasticum ( PXE ) is a hereditary connective tissue disorder affecting the skin, eyes, and blood vessels. PXE is a rare disease. Its incidence has been estimated at 1 in 25,000-50,000. Symptoms and Signs PXE affects the skin and eyes primarily. Skin changes are sometimes the first indication that a person has pseudoxanthoma elasticum PXE. The affected individual might notice small bumps, or lesions, on the skin. Typically, these skin changes appear first on the sides of the neck and then progress to other parts of the body, but other sites may be involved. The skin lesions are do not generally cause any problems. It is thought that most affected individuals, particularly those who have had PXE for more than 10 years, develop angioid streaks associated with

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