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         Pseudoxanthoma Elasticum:     more detail
  1. Gale Encyclopedia of Medicine: Pseudoxanthoma elasticum by Barbara J. Pettersen, 2002-01-01
  2. Pseudoxanthoma elasticum: An entry from Thomson Gale's <i>Gale Encyclopedia of Genetic Disorders, 2nd ed.</i> by Barbara, MS, CGC Pettersen, 2005
  3. Novel mutations in the ABCC6 Gene of German Patients with pseudoxanthoma elasticum.: An article from: Human Biology by Veronika Schulz, Doris Hendig, et all 2005-06-01
  4. Pseudoxanthoma Elasticum: An entry from Gale's <i>Gale Encyclopedia of Medicine, 3rd ed.</i> by Barbara Pettersen, 2006
  5. Pseudoxanthoma Elasticum - A Bibliography and Dictionary for Physicians, Patients, and Genome Researchers by Philip M. Parker, 2007-07-18
  6. Pseudoxanthoma elasticum (Clinics in dermatology) by Kenneth H Neldner, 1988
  7. Vascular studies in pseudoxanthoma elasticum and angioid streaks,: With a series of color photographs of the eyeground lesions (Acta medica Scandinavica. Supplementum) by Uno Carlborg, 1959

41. Pseudoxanthoma Elasticum
pseudoxanthoma elasticum. Uitleg achteruitgang van de elastische vezels, voornamelijkin de huid. Meer algemene term huidaandoeningen Rubriek G08 huid en haar
http://www.nizw.nl/thesaurus/00005271.htm
Prev Term: pseudo-werknemers
Next Term: psilocybine
pseudoxanthoma elasticum
Uitleg:
achteruitgang van de elastische vezels, voornamelijk in de huid
Meer algemene term:
huidaandoeningen
Rubriek:
G08 huid en haar

42. 2697 Pseudoxanthoma Elasticum Maps To An 820 Kb Region Of The
Program Nr 2697 pseudoxanthoma elasticum maps to an 820 kb regionof the p13.1 region of chromosome 16. O. Le Saux 1 , Z. Urban
http://www.faseb.org/genetics/ashg99/f2697.htm

43. NEJM -- Diagnosis Of Pseudoxanthoma Elasticum By Scar Biopsy In Patients Without
Original Article from The New England Journal of Medicine Diagnosis of pseudoxanthomaelasticum by scar biopsy in patients without characteristic skin
http://content.nejm.org/cgi/content/short/317/6/347
HOME SEARCH CURRENT ISSUE PAST ISSUES ... HELP Previous Volume 317:347-350 August 6, 1987 Number 6 Next Diagnosis of pseudoxanthoma elasticum by scar biopsy in patients without characteristic skin lesions
M Lebwohl, RG Phelps, L Yannuzzi, S Chang, I Schwartz, and W Fuchs Table of Contents Find Similar Articles in the Journal Notify a friend about this article Add to Personal Archive ... Related Articles in Medline Articles in Medline by Author: Lebwohl, M. Fuchs, W. Medline Citation Abstract
This article has been cited by other articles:
  • Lebwohl, M., Halperin, J., Phelps, R. G. (1993). Occult Pseudoxanthoma Elasticum in Patients with Premature Cardiovascular Disease. N Engl J Med [Full Text]
  • Grossi, E. A., Pasternack, P., Lebwohl, M., Phelps, R., Halperin, J. (1994). Pseudoxanthoma Elasticum. N Engl J Med [Full Text]

HOME
SEARCH CURRENT ISSUE ... HELP Comments and questions? Please contact us The New England Journal of Medicine is owned, published, and Massachusetts Medical Society

44. NEJM -- Diagnosis Of Pseudoxanthoma Elasticum By Scar Biopsy In Patients Without
Diagnosis of pseudoxanthoma elasticum by scar biopsy in patients without characteristicskin lesions M Lebwohl, RG Phelps, L Yannuzzi, S Chang, I Schwartz, and
http://content.nejm.org/cgi/content/abstract/317/6/347
HOME SEARCH CURRENT ISSUE PAST ISSUES ... HELP Previous Volume 317:347-350 August 6, 1987 Number 6 Next Diagnosis of pseudoxanthoma elasticum by scar biopsy in patients without characteristic skin lesions
M Lebwohl, RG Phelps, L Yannuzzi, S Chang, I Schwartz, and W Fuchs Table of Contents Find Similar Articles in the Journal Notify a friend about this article Add to Personal Archive ... Related Articles in Medline Articles in Medline by Author: Lebwohl, M. Fuchs, W. Medline Citation Abstract
This article has been cited by other articles:
  • Lebwohl, M., Halperin, J., Phelps, R. G. (1993). Occult Pseudoxanthoma Elasticum in Patients with Premature Cardiovascular Disease. N Engl J Med [Full Text]
  • Grossi, E. A., Pasternack, P., Lebwohl, M., Phelps, R., Halperin, J. (1994). Pseudoxanthoma Elasticum. N Engl J Med [Full Text]

HOME
SEARCH CURRENT ISSUE ... HELP Comments and questions? Please contact us The New England Journal of Medicine is owned, published, and Massachusetts Medical Society

45. Pseudoxanthoma Elasticum
pseudoxanthoma elasticum. IN THE REST OF THE WORLD. pseudoxanthoma elasticumInt'l. The US Nat'l Assoc. for pseudoxanthoma elasticum (US).
http://www.eadv.org/skinweb/pseela.html

46. Genesis Health System - Detailed Disease Info - Pseudoxanthoma Elasticum
pseudoxanthoma elasticum. Definition. ORGANIZATIONS. National Association for PseudoxanthomaElasticum. 1420 Ogden St., Denver, CO 802181910. (303) 832-5055.
http://www.genesishealth.com/micromedex/detaileddisease/00062470.aspx
Facility Information DeWitt Comm Hosp Genesis Medical Ctr Illini Hospital Genesis Health Grp VNA
Pseudoxanthoma elasticum
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 populationhigh blood pressure

47. Familial Pseudoxanthoma Elasticum
Photo essay. Familial pseudoxanthoma elasticum. Lindsey Kingdom. Keywordspseudoxanthoma elasticum , angioid streak , human genetics .
http://www.szp.swets.nl/szp/journals/og193169.htm
Ophthalmic Genetics
1998, Vol.19, No.3, pp. 169-171
© Æolus Press
Photo essay
Familial pseudoxanthoma elasticum
Lindsey F.F. Smith , Isabelle Russell-Eggitt and John Harper Great Ormond Street Hospital for Sick Children NHS Trust, Department of Ophthalmology, London, United Kingdom
Keywords: Pseudoxanthoma elasticum , angioid streak , human genetics .

48. Health Library - Pseudoxanthoma Elasticum (PXE)
pseudoxanthoma elasticum (PXE). pseudoxanthoma elasticum, PXE, is an inheriteddisorder that affects selected connective tissue in some parts of the body.
http://health_info.nmh.org/Library/HealthGuide/IllnessConditions/topic.asp?hwid=

49. PXE Links (Pseudoxanthoma Elasticum)
These are some of the many pages within that site PXE Int, INDEX main webpage PseudoxanthomaElasticum (List Serve) PXE Virtual Patient PXE Meeting Abstracts
http://home.insightbb.com/~guano/pxe.htm
PXE Links
(Pseudoxanthoma
elasticum)
Here are some PXE
links I have found:
National Organization for Rare Disorders - PXE page

NORD page on PXE Organizations

PXE (www.lowvision.org page)

NAPE Home Page (Denver)
...
PXE Awareness in Australia

PXE International's web site is THE best source for info!
These are some of the many pages within that site:
PXE Int, INDEX main webpage
Pseudoxanthoma Elasticum (List Serve) PXE Virtual Patient PXE Meeting Abstracts ... Links Check out the homepages of some individuals.. We are so few, we're our own best resource! guano, that's me! (aka: John Alft) Hmm, I need more links Send me some, why dontcha? My E-mail is john@alft.net the Hope butterfly ( Teinopalpus imperialis ) last updated January 30l 2001

50. CVNET Archive 97: CVNet - Pseudoxanthoma Elasticum Web Site
CVNet pseudoxanthoma elasticum web site. CVNet (cvnet@skivs.ski.org)Mon, 20 Jan 97 235056 PST
http://www.visionscience.com/mail/cvnet/1997/0016.html
CVNet - pseudoxanthoma elasticum web site
CVNet cvnet@skivs.ski.org
Mon, 20 Jan 97 23:50:56 PST
From: Tshar@aol.com
To: cvnet@skivs.ski.org
Subject: Pseudoxanthoma elasticum (PXE) web site
Dear Hoover,
Can you alert the medical vision community to the fact that our web site is
finally up! It contains all the current PXE bulletins and info that we have
both gathered and produced. The URL is
http://www.med.harvard.edu/programs/PXE

Thanks!
Sharon Terry, President PXE International, Inc. 23 Mountain Street Sharon, MA 02067 Voice and fax: 617-784-3817 PXEInter@aol.com or pxe@tiac.net http://www.med.harvard.edu/programs/PXE

51. CVNET Archive 97: CVNet - Int'l Meeting On Pseudoxanthoma Elasticum
CVNet Int'l Meeting on pseudoxanthoma elasticum. ***** InternationalCentennial Meeting on pseudoxanthoma elasticum. November 6 and 7, 1997.
http://www.visionscience.com/mail/cvnet/1997/0106.html
CVNet - Int'l Meeting on Pseudoxanthoma Elasticum
CVNet cvnet@skivs.ski.org
Mon, 24 Mar 97 01:50:58 PST
From: Tshar@aol.com
To: cvnet@skivs.ski.org
Subject: PXE conference
Dear Hoover,
Could you please post this?
International Centennial Meeting on Pseudoxanthoma Elasticum
November 6 and 7, 1997
Bethesda Marriott
Bethesda, MD
This two day workshop will bring together investigators to discuss recent advances in pseudoxanthoma elasticum (PXE). Topics will include genetics, cell biology, ophthalmology, dermatology, and animal models. Potential poster presenters, speakers and participants should contact: Sharon Terry, President PXE International, Inc. 23 Mountain Street Sharon, MA 02067 Voice and fax: 617-784-3817 pxe@tiac.net http://www.med.harvard.edu/programs/PXE for more information. Following the workshop a three day conference for affected individuals and their families will take place (Nov 7 to 9). Individuals may contact the

52. Untitled
10 April 1997 pseudoxanthoma elasticum. I was recently consulted bya family with an isolated case of pseudoxanthoma elasticum. In
http://www.hum-molgen.de/clinical/10497-ncpr1.html
HUM-MOLGEN DIAGnostics/Clinical Research
10 April 1997
Pseudoxanthoma Elasticum
I was recently consulted by a family with an isolated case of pseudoxanthoma elasticum. In reviewing the litterature and OMIM I was struck by how vague the information was on mode of inheritance and risks for other members of the family. I would therefore like to contact medical and molecular geneticists with special expertise in this condition for further information. Sincerely yours, Jon J. Jonsson, M.D., Ph.D. Docent and Director Department of Clinical Biochemistry Landspitalinn - University Hospital of Iceland Baronsstig 101 Reykjavik ICELAND Tel.: 011-354-560-1840 FAX: 011-354-560-1810 email: jonjj@rsp.is

53. Pseudoxanthoma Elasticum
Translate this page Te recomendamos esta web, http//www.emedicine.com/oph/topic475.htm en ella encontrarasuna revision sobre pseudoxanthoma elasticum. pseudoxanthoma elasticum.
http://www.fonendo.com/noticias/32/2001/02/2.shtml
Buscafonendo Consultasfonendo Foros Panel de Control ... Pub Med Usuario
Temas Alergia
Anestesia

Artritis

Calidad de Vida
... Oftalmología
Pseudoxanthoma Elasticum www.emedicine.com 18/02/2001 Te recomendamos esta web, http://www.emedicine.com/oph/topic475.htm en ella encontraras una revision sobre Pseudoxanthoma Elasticum
fonendo.com
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54. National Association For Pseudoxanthoma Elasticum, Inc.
National Association for pseudoxanthoma elasticum, Inc. 8772 Bridgeport Road St.Louis, MO 63144 Conditions pseudoxanthoma elasticum. Answering Machine yes
http://www.geneticalliance.org/diseaseinfo/displayorganization.html?orgname=Nati

55. Acne-like Eruption Induced By Pseudoxanthoma Elasticum: Effectiveness Of Liquid
Clinical Reports. Acnelike eruption induced by pseudoxanthoma elasticumeffectiveness of liquid nitrogen cryotherapy. François LOCHE
http://www.john-libbey-eurotext.fr/articles/ejd/8/1/63-5/
European Journal of Dermatology European Journal of Dermatology. Vol. 8, Issue 1, January - February 1998: 63-5, Clinical Reports Acne-like eruption induced by pseudoxanthoma elasticum: effectiveness of liquid nitrogen cryotherapy
Huguette RAYNAL
Jacques BAZEX
Department of Dermatology, Purpan Hospital, Place du Dr. Baylac, 31059 Toulouse, France.
Fax: (+33) 5.61.77.76.72.
Reprints J. Bazex. RESUME SUMMARY ARTICLE, Part. 1 ... FIGURES RESUME / SUMMARY Haut de page We report a case of pseudoxanthoma elasticum associated with an acneiform eruption involving the cervical area. When she was 16 years-old our patient was diagnosed with pseudoxanthoma elasticum, affecting the skin (flexural, cervical and neck areas) and the eyes (bilateral ocular angioid streaks). Ten years later, acneiform lesions (inflammatory and comedones) developed on these lesions: This association is rarely reported and we think that atypical, cervical acneiform lesions may be an indication of pseudoxanthoma elasticum. The mechanism for this association is not clearly understood. In our case, Von-Kossa staining was negative for the granulomatous lesions and positive for the comedones: calcification could protect elastopathic fibers from phagocytosis. Treatment is difficult: anti-acneic treatments are not effective except for tetracylines, the anti-inflammatory effects of which can improve granulomatous lesions. As its efficacy has been reported in elastosis perforans serpiginosa, we used liquid nitrogen cryotherapy on the inflammatory lesions with good results (separation of epidermis from dermis perhaps promoting transepithelial elimination of the abnormal dermal elastic tissue).

56. Acne-like Eruption Induced By Pseudoxanthoma Elasticum: Effectiveness Of Liquid
Acnelike eruption induced by pseudoxanthoma elasticum effectiveness ofliquid nitrogen cryotherapy. European Journal of Dermatology. Vol.
http://www.john-libbey-eurotext.fr/articles/ejd/8/1/63-5/en-resum.htm
European Journal of Dermatology. Vol. 8, Issue 1, January - February 1998
Acne-like eruption induced by pseudoxanthoma elasticum: effectiveness of liquid nitrogen cryotherapy
European Journal of Dermatology. Vol. 8, Issue 1, January - February 1998: 63-5, Clinical Reports Summary: We report a case of pseudoxanthoma elasticum associated with an acneiform eruption involving the cervical area. When she was 16 years-old our patient was diagnosed with pseudoxanthoma elasticum, affecting the skin (flexural, cervical and neck areas) and the eyes (bilateral ocular angioid streaks). Ten years later, acneiform lesions (inflammatory and comedones) developed on these lesions: – the inflammatory lesions were characterized by phagocytosis of pathological elastic fibers inducing granuloma – the histological aspects of pseudoxanthoma elasticum were observed around large comedones. This association is rarely reported and we think that atypical, cervical acneiform lesions may be an indication of pseudoxanthoma elasticum. The mechanism for this association is not clearly understood. In our case, Von-Kossa staining was negative for the granulomatous lesions and positive for the comedones: calcification could protect elastopathic fibers from phagocytosis. Treatment is difficult: anti-acneic treatments are not effective except for tetracylines, the anti-inflammatory effects of which can improve granulomatous lesions. As its efficacy has been reported in elastosis perforans serpiginosa, we used liquid nitrogen cryotherapy on the inflammatory lesions with good results (separation of epidermis from dermis perhaps promoting transepithelial elimination of the abnormal dermal elastic tissue).

57. Pseudoxanthoma Elasticum - General Practice Notebook
medical information from General Practice Notebook. pseudoxanthoma elasticum.pseudoxanthoma elasticum is an autosomal recessive disorder
http://www.gpnotebook.co.uk/cache/832176149.htm
pseudoxanthoma elasticum Pseudoxanthoma elasticum is an autosomal recessive disorder of elastic fibres characterized by xanthoma-like yellowish nodules, especially in the axillae and neck. Patients with this condition may also have angioid streaks of the optic fundus and angiomatous malformations of the blood vessels (which can bleed into the gastrointestinal tract). A similar condition may also occur with long-term and high-dose treatment with D-penicillamine which produces similar cutaneous features.
Click here for more information...

58. Pseudoxanthoma Elasticum : Meddie Health Search
ITEMS LINKS MyLifePath An in depth look at pseudoxanthoma elasticum.(Rating 0.00 Votes 0) Rate It. PXE International The comprehensive
http://www.meddie.com/search/Health/Conditions_and_Diseases/Genetic_Disorders/Ps
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Search Meddie: the entire directory only this category More search options Home Health Conditions and Diseases ... Genetic Disorders : Pseudoxanthoma Elasticum ITEMS: LINKS:
  • MyLifePath
    An in depth look at Pseudoxanthoma elasticum.
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  • PXE International
    The comprehensive source for pseudoxanthoma elasticum research and world wide activities.
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  • VhiHealth-e
    A definition of Pseudoxanthoma elasticum followed by a description, causes and symptoms, diagnosis, treatment options, prognosis and prevention.
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59. 00.05.23 - Gene Mutation Found As Cause Of Pseudoxanthoma Elasticum.
Three groups of researchers have found the gene mutation that causes the raredisorder pseudoxanthoma elasticum and effects the body's connective tissue.
http://library.uchc.edu/bhn/cite/nyt/2936mutation.html
BIOMEDICINE AND HEALTH IN THE NEWS HEADLINE:
A family's goal is met and a gene is found. NEWSPAPER ARTICLE SYNOPSIS:
Three groups of researchers have found the gene mutation that causes the rare disorder
pseudoxanthoma elasticum and effects the body's connective tissue. The research was
supported by a foundation established by parents of a child with the disorder. NEWSPAPER ARTICLE SOURCE:
Kolata G. A family's goal is met and a gene is found. New York Times 2000 May 23 :
F2 (col. 2). NEWSPAPER ARTICLE MENTIONS:
Dr. Charles D. Boyd of the University of Hawaii and Dr. Arthur A.B. Bergen of the
Netherlands Ophthalmic Research Institute in Amsterdam who will publish their research
findings in the June issue of Nature Genetics. Dr. Jouni Uitto of Thomas Jefferson University in
Philadelphia who reports on his research in the May 23 print issue of the Proceedings of the National Academy of Sciences. JOURNAL ARTICLE CITATIONS: Ringpfeil F, Lebwohl MG, Christiano AM, Uitto J. Pseudoxanthoma elasticum: mutations in the MRP6 gene encoding a transmembrane ATP-binding cassette (ABC) transporter. Proceedings

60. Pseudoxanthoma Elasticum | Principal Health News
pseudoxanthoma elasticum. Lica, Lorraine. Organizations National Associationfor pseudoxanthoma elasticum. 1420 Ogden St., Denver, CO 802181910.
http://www.principalhealthnews.com/topic/topic100587360

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Definition

Description
Causes and symptoms Diagnosis ... Resources 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.

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