21. Pseudoxanthoma Elasticum (PXE). DermNet NZ Authoritative facts about the skin from the New Zealand Dermatological Society. http://dermnetnz.org/systemic/pxe.html

@import url("/common/screen.css"); DermNet NZ Ad Authoritative facts about the skin from the New Zealand Dermatological Society Incorporated Home For patients For doctors ... Site map Search: Home Systemic 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 appears to relate to genetic abnormalities on chromosome 16p13.1. The disease involves the transporter genes MRP6 or ABCC6 in at least some affected families. 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

22. PXE - Selbsthilfegruppe F R PXE-Erkrankte Deutschlands - Startseite = pseudoxanthoma elasticum = das GroenbladStrandberg-Syndrom ist eine vererbbare Krankheit, die das Bindegewebe in einigen K rperteilen http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

23. DermAtlas Online Dermatology Image Library Dermatology Image DermAtlas Dermatology Images pseudoxanthoma elasticum,dermatology image,angioid pseudoxanthoma elasticum is an inherited disorder involving the http://dermatlas.med.jhmi.edu/derm/result.cfm?Diagnosis=-1870527506

24. GeneReviews: Pseudoxanthoma Elasticum Your browser does not support HTML frames so you must view pseudoxanthoma elasticum in a slightly less readable form. Please follow this link to do so. http://www.genetests.org/query?dz=pxe

25. PiXiE Supporting Sufferers Of Pseudoxanthoma Elasticum Supporting sufferers of pseudoxanthoma elasticum. The pseudoxanthoma elasticum (PXE) Support Group (PiXiE) is a nonprofit making charitable trust, http://www.pxe.org.uk/pages/aboutpixie.html

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

26. Pseudoxanthoma Elasticum CHC Wausau Hospital s Medical Library and Patient Education Center provides research services and healthcare information to physicians, http://www.chclibrary.org/micromed/00062470.html

Main Search Index Definition Description Causes ... Resources 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

27. Pseudoxanthoma Elasticum pseudoxanthoma elasticum PXE INTERNATIONAL. PXE International funds research pertaining to pseudoxanthoma elasticum, a rare disorder of degeneration of http://vpr2.admin.arizona.edu/rso/01100508.htm

PSEUDOXANTHOMA ELASTICUM - PXE INTERNATIONAL PXE International funds research pertaining to pseudoxanthoma elasticum, a rare disorder of degeneration of the elastic fibers. Contact: PXE International, 23 Mountain Street, Sharon, MA 02067. Telephone: (781) 784-3817. Fax: (781) 784-6672. E-mail: pxe@pxe.org Web: http://www.pxe.org Applications are available from the RSO, 621-1469, rso@u.arizona.edu Deadline: None. RSO Reference No.:

28. Pseudoxanthoma Elasticum National Association for pseudoxanthoma elasticum. 3500 East 12th Avenue, Denver, CO 80206. (303) 3553866. Fax (303) 355-3859. http://www.healthatoz.com/healthatoz/Atoz/ency/pseudoxanthoma_elasticum.jsp

29. BBC - Health - Conditions - Pseudoxanthoma Elasticum A guide to pseudoxanthoma elasticum. In fact, ask anyone what pseudoxanthoma elasticum is and you ll probably get a blank look. http://www.bbc.co.uk/health/conditions/pxe1.shtml

@import url('/includes/tbenh.css') ; Home TV Radio Talk ... A-Z Index FRIDAY 9th September 2005 Text only BBC Homepage Lifestyle Health ... Help Like this page? Send it to a friend! Pseudoxanthoma elasticum (PXE) Dr Rob Hicks PXE is a rare condition that not even doctors know much about. In fact, ask anyone what pseudoxanthoma elasticum is and you'll probably get a blank look. In this article What is PXE? The symptoms: Other problems Treatment What is PXE? PXE is a rare condition that is estimated to affect one in 100,000 people worldwide. It's an inherited disorder about which little is known even though it was first described more than 100 years ago. However, recently the gene responsible for PXE was discovered on the short arm of chromosome 16. It's called multi-drug resistance-like protein or MRP6. PXE causes the elastic fibres that are normally found in the skin, the retina of the eyes, and blood vessels, to become calcified and lose their elasticity. PXE affects women twice as often as it affects men and, in most cases, it tends to start at about 13 years old. However, it has been diagnosed as early as two years old and as late as 20 years old. The symptoms: PXE facts rare inherited condition about one in 100,000 people affected

30. Pseudoxanthoma Elasticum pseudoxanthoma elasticum, or GronbladStrandberg syndrome, is a systemic, genetic disorder The locus of pseudoxanthoma elasticum has been mapped to an 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.

31. PXE National organizations variety of resources; pseudoxanthoma elasticum, pseudoxanthoma elasticum, Autosomal Recessive, Online Inheritance in Man (OMIM 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 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 September 2, 2004 Genetic Societies Clinical Resources Labs Clinics ... Search Genetics Education Center Debra Collins, M.S. CGC

32. THE MERCK MANUAL--SECOND HOME EDITION, Pseudoxanthoma Elasticum In Ch. 279, Here pseudoxanthoma elasticum is a disorder of connective tissue that causes abnormalities pseudoxanthoma elasticum stiffens the fibers that enable tissue to http://www.merck.com/mmhe/sec23/ch279/ch279d.html

var externalLinkWarning = "The link you have selected will take you to a site outside Merck and The Merck Manuals.*n*nThe Merck Manuals do not review or control the content of any non-Merck site. The Merck Manuals do not endorse and are not responsible for the accuracy, content, practices, or standards of any non-Merck sources."; Search The Second Home Edition , Online Version Search Index A B C D ... Z Sections Accidents and Injuries Blood Disorders Bone, Joint, and Muscle Disorders Brain, Spinal Cord, and Nerve Disorders ... Women's Health Issues Resources Anatomical Drawings Multimedia Pronunciations Weights and Measures ... , Online Version Section Children's Health Issues Chapter Hereditary Connective Tissue Disorders Topics Introduction Chondrodysplasias Cutis Laxa Ehlers-Danlos Syndrome ... Osteopetroses Pseudoxanthoma Elasticum Pseudoxanthoma Elasticum Buy The Book Print This Topic Email This Topic Pronunciations angina anticoagulants claudication mucopolysaccharidoses ... uterus Pseudoxanthoma elasticum is a disorder of connective tissue that causes abnormalities in the skin, eyes, and blood vessels. Pseudoxanthoma elasticum stiffens the fibers that enable tissue to stretch and then spring back into place (elastic fibers). Elastic fibers are in the skin and various other tissues throughout the body, including blood vessels. The blood vessels may stiffen, losing their normal ability to expand and allow more blood to flow as needed; stiffness also prevents the blood vessels from contracting.

33. Pseudoxanthoma Elasticum Bullet National Association for pseudoxanthoma elasticum (NAPE). Bullet pseudoxanthoma elasticum (PXE) An excellent resource for information on PXE or the http://www.lowvision.org/pseudoxanthoma_elasticum.htm

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

34. Elastic Tissue Abnormalities Resembling Pseudoxanthoma Elasticum In Beta Thalass Occult pseudoxanthoma elasticum in patients with premature pseudoxanthoma elasticumlike skin lesions and angioid streaks in beta-thalassemia. http://www.bloodjournal.org/cgi/content/full/99/1/30

QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: This Article Abstract Full Text (PDF) Alert me when this article is cited ... Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Rights and Permissions PubMed PubMed Citation Articles by Aessopos, A. Articles by Loukopoulos, D. Related Collections Review Articles Clinical Observations, Interventions, and Therapeutic Trials Red Cells Blood, 1 January 2002, Vol. 99, No. 1, pp. 30-35 REVIEW ARTICLE Elastic tissue abnormalities resembling pseudoxanthoma elasticum in thalassemia and the sickling syndromes Athanasios Aessopos Dimitrios Farmakis and Dimitris Loukopoulos From the First Department of Internal Medicine, University of Athens, School of Medicine, "Laiko" General Hospital, Athens, Greece. Abstract Top Abstract Introduction PXE PXE-like manifestations in Pathogenesis and genetics PXE-related complications Management and guidelines Conclusion References The development of clinical and histopathologic manifestations of a diffuse elastic tissue defect, resembling inherited pseudoxanthoma

35. Elastic Tissue Abnormalities Resembling Pseudoxanthoma Elasticum In Beta Thalass Elastic tissue abnormalities resembling pseudoxanthoma elasticum in beta thalassemia and the sickling syndromes. Athanasios Aessopos, Dimitrios Farmakis, http://www.bloodjournal.org/cgi/content/abstract/99/1/30

QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: This Article Full Text Full Text (PDF) Alert me when this article is cited ... Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Rights and Permissions PubMed PubMed Citation Articles by Aessopos, A. Articles by Loukopoulos, D. Related Collections Review Articles Clinical Observations, Interventions, and Therapeutic Trials Red Cells Blood, 1 January 2002, Vol. 99, No. 1, pp. 30-35 REVIEW ARTICLE Elastic tissue abnormalities resembling pseudoxanthoma elasticum in thalassemia and the sickling syndromes Athanasios Aessopos Dimitrios Farmakis and Dimitris Loukopoulos From the First Department of Internal Medicine, University of Athens, School of Medicine, "Laiko" General Hospital, Athens, Greece. The development of clinical and histopathologic manifestations of a diffuse elastic tissue defect, resembling inherited pseudoxanthoma elasticum (PXE), has been encountered with a notable frequency

36. Pseudoxanthoma Elasticum Definition - Medical Dictionary Definitions Of Popular Online Medical Dictionary and glossary with medical definitions. http://www.medterms.com/script/main/art.asp?articlekey=5102

37. Eye Conditions > Pseudoxanthoma Elasticum -- EyeMDLink.com pseudoxanthoma elasticum. The eye is often affected by the development of angioid streaks, which are splits in a layer of the eye which lies deep to the http://www.eyemdlink.com/Condition.asp?ConditionID=368

38. Pseudoxanthoma Elasticum (PXE) - Patient UK pseudoxanthoma elasticum (PXE) Patient UK. A directory of UK health, disease, illness and related medical websites that provide patient information. http://www.patient.co.uk/showdoc/40002335/

PatientPlus articles are written for doctors and so the language can be technical. However, some people find that they add depth to the articles found in the other sections of this website which are written for non-medical people. Pseudoxanthoma elasticum (PXE) Synonyms: Gronblad-Strandberg Syndrome A genetic connective tissue disorder with progressive calcification and fragmentation of elastic fibres in the skin, the retina, and the cardiovascular system. Usually skin lesions begin in childhood but they are not noted until adolescence. In some people skin lesions do not appear until later in life. This disease is important to recognize early to minimize the problem of retinal or gastrointestinal haemorrhage and cardiovascular complications. It can also involve the urinary tract and lungs. Epidemiology Incidence Between 1 in 70,000 and 1 in 100,000 but milder cases are not diagnosed . It affects females twice as often as males. Affects all races. There are 4 modes of inheritance, 2 autosomal dominant and 2 autosomal recessive. 90% of cases are thought to be recessive but some may be new mutations. Prevalence Most new cases are between 10-15 years old but it can vary between infancy and the seventh decade of life or later.

39. Pseudoxanthoma Elasticum - Patient UK pseudoxanthoma elasticum Information leaflet available on the website provided by the They have not been checked to see if pseudoxanthoma elasticum is http://www.patient.co.uk/showdoc/519/

Pseudoxanthoma Elasticum UK sources of information and / or support PIXIE PIXIE is the UK support group for sufferers of Pseudoxanthoma Elasticum, their families and friends. Learn about the disease, its effects treatment and current research. Pseudoxanthoma Elasticum Information leaflet available on the website provided by the Skin Care Campaign. Their information leaflets are in the "Directory of Skin Disease" in their section called "What we are doing". Medicines information Web-sites providing information about prescription and over the counter drugs and medicines. Further sources / More detailed information Some non-UK sites The following list popular non-UK health information sites, mainly from the US. They have not been checked to see if Pseudoxanthoma Elasticum is included but these large sites are comprehensive. Non-UK disease / illness sites Non-UK self-help / support group sites Evidence Based Medicine For sites and information on Evidence Based Medicine. Searching Medline For information on Medline and how it is used to find detailed medical and health information. Sponsored links and adverts Patient UK has no control of the content of the following links. Inclusion does not imply endorsement by Patient UK.

40. IM Quiz: Pseudoxanthoma Elasticum pseudoxanthoma elasticum is a rare condition but it is important to pick up due pseudoxanthoma elasticum is one disease to consider in the differential http://meded.ucsd.edu/isp/1994/im-quiz/pseudox.htm

Pseudoxanthoma Elasticum This patient is exhibiting the findings consistent with the diagnosis of pseudoxanthoma elasticum. The yellow lesions over her eyelids are xanthelasmas which are are filled with lipid laden macrophages. Xanthomas can also be found on the extensor surface of the arms: Or on the hands and achilles tendon: Her eye is exhibiting what is some times called the "arcus senilis" which in a young person should prompt a search for a lipid disorder. This is not necessarily the case with elderly individuals and can be found in elderly people with no lipid disorders. Most people now use the term "arcus" only. The arrowheads in the fundoscopic picture are pointing to what are called angiod streaks. These vessel like streaks are actually breaks in Bruch's membrane beneath the retina and can be a threat to vision if subretinal neovascularization occurs. Fortunately, the neovascularization will respond to laser therapy and prompt referral to an ophthamologist is warranted. Other important physical exam findings include a characteristic neck finding: As well as other interesting elicitable neck findings: They may also have the same hyperpigmented angiod lesions in skin fold areas, of which the groin is one such site:

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