41. HON Mother & Child Glossary, Pseudoxanthoma Elasticum HON Mother Child Glossary, pseudoxanthoma elasticum. pseudoxanthoma elasticum (PXE) is a hereditary connective tissue disorder affecting the skin, eyes, 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 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 calcification (build up of calcium) of elastin-rich tissues in the eye. Angioid streaks do not necessarily affect vision, however further changes to the eye may cause loss in central vision. A person with PXE rarely, if ever, becomes totally blind, however they may lose central vision to the extent that they become legally blind, and able to see only through peripheral vision. Every individual affected by PXE should have an annual examination by an ophthalmologist (eye doctor).

42. Pseudoxanthoma Elasticum National network. Founded 1988. Support, education, research and advocacy for persons with (PXE), and http://my.webmd.com/hw/health_guide_atoz/shc29pse.asp

var guid_source = ""; var guid_source_id = ""; //unused var encodedurl = ""; WebMD Today Home WebMD News Center XML News via RSS Member Services WebMD University My WebMD Find a Physician Medical Info Check Symptoms Medical Library Health Tools Clinical Trials ... Women, Men, Lifestyle Who We Are About WebMD Site Map You are in Medical Library Our Content Sources Ask A Question Clinical Trials Health Guide A-Z Health Topics Symptoms Medical Tests Medications ... PXE International, Inc. Pseudoxanthoma Elasticum National Association for Pseudoxanthoma Elasticum National network. Founded 1988. Support, education, research and advocacy for persons with (PXE), and their families, interested others, and professionals. Newsletter, information and referrals, phone support. Donations appreciated and tax deductible. WRITE: NAPE 8764 Manchester Rd. #200 St. Louis, MO 63144-2724 CALL: 314-962-0100 (Voice/Fax) E-MAIL: napestlouis@sbcglobal.net WEBSITE: http://www.pxenape.org VERIFIED: 10/25/2004 PXE International, Inc. International. 50 affiliated groups. Founded 1995. Support for persons affected by pseudoxanthoma elasticum (PXE), their families and friends. Peer support for physicians. Offers support groups, phone and mail contacts, literature, and quarterly newsletter. Offers assistance in starting similar group.

43. Pseudoxanthoma Elasticum (PXE) pseudoxanthoma elasticum, PXE, is an inherited disorder that affects selected connective tissue in some http://my.webmd.com/hw/health_guide_atoz/nord253.asp

var guid_source = ""; var guid_source_id = ""; //unused var encodedurl = ""; WebMD Today Home WebMD News Center XML News via RSS Member Services WebMD University My WebMD Find a Physician Medical Info Check Symptoms Medical Library Health Tools Clinical Trials ... Women, Men, Lifestyle Who We Are About WebMD Site Map You are in Medical Library Our Content Sources Ask A Question Clinical Trials Health Guide A-Z Health Topics Symptoms Medical Tests Medications ... For a Complete Report Pseudoxanthoma Elasticum (PXE) Important 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 Elastosis Dystrophica Syndrome (obsolete) Gronblad-Strandberg Syndrome Systemic Elastorrhexis (obsolete) Disorder Subdivisions PXE, Recessive Type PXE, Dominant Type General Discussion 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. Resources National Association for Pseudoxanthoma Elasticum (NAPE) 8764 Manchester Road Suite 200 St Louis, MO 63144-2724

44. HighWire -- Browse Journals - Pseudoxanthoma Elasticum Browse Journals publishing on pseudoxanthoma elasticum, (return to Topic List Journals focusing on pseudoxanthoma elasticum (in order by highest focus) http://highwire.stanford.edu/lists/topic_dir/608683/608684/610114/610246/610264/

ANNOUNCEMENT: CHECK OUT THE PREVIEW RELEASE OF OUR NEW WEB SITE! My Favorite Journals ( HW-hosted journals HW-hosted Medline Author: Keyword(s): Year: Vol: Page: Home Adv. Search For Institutions For Publishers ... Sign in or register for access to all HighWire Press customization features Browse Journals publishing on Pseudoxanthoma Elasticum: (return to Topic List page) Pseudoxanthoma Elasticum Sort by: Alphabet Frequency of articles in Pseudoxanthoma Elasticum Focus of journal on Pseudoxanthoma Elasticum What's this? Journals focusing on Pseudoxanthoma Elasticum (in order by highest focus) British Journal of Radiology info free ISSUES American Journal Of Pathology ... Connective Tissue Diseases Pseudoxanthoma Elasticum Home Adv. Search For Institutions For Publishers ... partners/suppliers

45. HighWire -- Browse Journals - Pseudoxanthoma Elasticum Browse Journals publishing on pseudoxanthoma elasticum, (return to Topic List page) Alphabet, , Frequency of articles in pseudoxanthoma elasticum http://highwire.stanford.edu/lists/topic_dir/608683/608684/610114/610246/610264/

ANNOUNCEMENT: CHECK OUT THE PREVIEW RELEASE OF OUR NEW WEB SITE! My Favorite Journals ( HW-hosted journals HW-hosted Medline Author: Keyword(s): Year: Vol: Page: Home Adv. Search For Institutions For Publishers ... Sign in or register for access to all HighWire Press customization features Browse Journals publishing on Pseudoxanthoma Elasticum: (return to Topic List page) Pseudoxanthoma Elasticum Sort by: Alphabet Frequency of articles in Pseudoxanthoma Elasticum Focus of journal on Pseudoxanthoma Elasticum What's this? Journals frequently publishing on Pseudoxanthoma Elasticum (in order by most frequent) British Journal of Radiology info free ISSUES American Journal Of Pathology ... Connective Tissue Diseases Pseudoxanthoma Elasticum Home Adv. Search For Institutions For Publishers ... partners/suppliers

46. Pseudoxanthoma Elasticum Characterization of pseudoxanthoma elasticumlike lesions in the skin of To better understand the pathogenetics of pseudoxanthoma elasticum (PXE), http://www.thedoctorsdoctor.com/diseases/pxe.htm

Background This is an inherited disorder of connective tissue involving the elastic tissue fibers. There are at least four variants. The classic skin changes usually arise by the second decade and are closely set yellowship papules occurring in the flexural creases especially in the neck and axillae, with decreasing involvement in the groins, periumbilical area, cubital and popliteal fossae, and oral cavity. These skin lesions are wrinkled and thickened and evolve into lax and redundant skin. The characteristic eye changes consist of angioid streaks and choroidoretinitis which may progress to blindness. In tissue sections, the calcium content is greatly increased leading to calcification of the elastic fibers and arteries of the eyes. Other vascular changes may lead to hypertension, cerebrovascular accidents, and gastrointestinal hemorrhage. The cause is unknown. Cultured fibroblasts from afflicted patients release a proteolytic substance which may damage the elastin in the elastic fibers leading to calcificaiton. An acquired variant may be several diseases and has been associated with exposure to calcium salts and obese patients, usually multiparous black women. These latter patients may also develop perforation. Unlike the inherited form, there is an absence of extra-cutaneous disease.

47. Pseudoxanthoma Elasticum Base de données sur les maladies rares et les médicaments orphelins. http://www.orpha.net/static/GB/pseudoxanthoma_elasticum.html

Orphanet database access Pseudoxanthoma elasticum Direct access to data Alias Pseudoxanthoma elasticum, dominant form Pseudoxanthoma elasticum, recessive form Summary Clinical signs Autosomal dominant inheritance Autosomal recessive inheritance Cutaneous nodules Hyperelastic skin Visual loss-mild/suspected Blue sclerae High vaulted/narrow palate Hyperextensible joints Myopia Retinal vascular changes Vascular hypertension Visual loss-severe Atheromas Hypothyroidy Renal failure Update : 04/09/2005 Orphanet database access

48. Pseudoxanthoma Elasticum (PXE) pseudoxanthoma elasticum, PXE, is an inherited disorder that affects selected connective tissue in some parts of the body. Elastic tissue in the body http://www.bchealthguide.org/kbase/nord/nord253.htm

var hwPrint=1;var hwDocHWID="nord253";var hwDocTitle="Pseudoxanthoma Elasticum (PXE)";var hwRank="1";var hwSectionHWID="nord253-Header";var hwSource="en-caQ2_05";var hwDocType="Nord"; National Organization for Rare Disorders, Inc. Pseudoxanthoma Elasticum (PXE) Important 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 Elastosis Dystrophica Syndrome (obsolete) Gronblad-Strandberg Syndrome Systemic Elastorrhexis (obsolete) Disorder Subdivisions PXE, Recessive Type PXE, Dominant Type General Discussion 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. Resources National Association for Pseudoxanthoma Elasticum (NAPE) 8764 Manchester Road Suite 200 St Louis, MO 63144-2724

49. Angioid Streaks And Pseudoxanthoma Elasticum Information regarding angioid streaks and pseudoxanthoma elasticum. http://www.vrmny.com/angioid_streaks_and_pxe.htm

Angioid Streaks and Pseudoxanthoma Elasticum By K. Bailey Freund, MD Lawrence A. Yannuzzi, MD co What are angioid streaks? Angioid streaks are a retinal finding which can lead to visual loss. Dr. Robert W. Doyne, a British ophthalmologist, first described them in 1889. They are irregular, jagged, curvilinear lines that radiate from the region of the optic nerve into the more peripheral retinal tissue, particularly the central area known as the macula (see above). Often reddish-brown in color, their appearance mimics that of retinal blood vessels, hence, the name "angioid." Angioid streaks represent defects or cracks in a tissue layers beneath the retina known as Bruch's membrane (see above). The retinal pigment epithelium (RPE) and choroid are secondarily effected. Through these cracks, new blood vessels known as choroidal neovascularization (CNV) may proliferate. CNV originates from the small superficial vessels of choroid, known as the choriocapillaris. As CNV progresses, the abnormal vessels may leak fluid and bleed. Eventually this process causes damage to the overlying retina. Decreased and/or distorted vision will often occur. In up to 50% of cases of angioid streaks the cause is unknown or "idiopathic." A number of systemic diseases have been linked to angoid streaks. These include pseudoxanthoma elasticum (PXE), Ehlers-Danlos disease, Paget’s disease of the bone, and sickle cell disease. Of these, PXE is by far the most common.

50. Pseudoxanthoma Elasticum Topic - Unified Search Environment pseudoxanthoma elasticum Topic Tree pseudoxanthoma elasticum COSTAR/PT/NOCODE MSH/MH/D011561 DXP/DI/U001611 CSP/PT/18498016 http://www.use.hcn.com.au/portals/shared/subject.`Pseudoxanthoma Elasticum`/home

Pseudoxanthoma Elasticum Topic Tree Definition: A rare, progressive inherited disorder resulting from extensive basophilic degeneration of elastic tissue, usually presenting after puberty and involving the skin, eye, and cardiovascular system. Characteristic manifestations are small, circumscribed yellowish patches at sites of considerable movement of the skin, ANGIOID STREAKS in the retina, and a tendency towards hemorrhage and arterial insufficiency. Synonyms and Source Vocabularies: Pseudoxanthoma Elasticum ELASTOSIS DYSTROPHICA SYNDROME ELASTORRHEXIS, SYSTEMIC, OF TOURAINE Skin and Connective Tissue Diseases Connective Tissue Diseases Cartilage Diseases Cellulitis Collagen Diseases Cutis Laxa ... Skin Diseases

51. DermIS / Main Menu / DOIA / Pseudoxanthoma Elasticum / Images pseudoxanthoma elasticum / images. images for the diagnosis pseudoxanthoma elasticum . Click to enlarge. Click to enlarge. Click to enlarge. http://www.dermis.net/doia/diagnose.asp?zugr=d&lang=e&diagnr=757390&topic=t

52. DermIS / Main Menu / DOIA / Alphabetically / Diagnosenames Containing 'pseudoxan Arch Ophthalmol Abstract Spectrum of Pattern Dystrophy in Spectrum of Pattern Dystrophy in pseudoxanthoma elasticum Institute using the keywords angioid streaks and pseudoxanthoma elasticum yielded 28 names. http://www.dermis.net/doia/abrowser.asp?zugr=d&lang=e&beginswith=pseudoxanthoma

53. EyeOrbit - Ocular Complications Of Pseudoxanthoma Elasticum Ocular Complications of pseudoxanthoma elasticum Keywords, Pseudoxanthoma, Elasticum, Angioid, Streaks. Date, 02/21/2005 1148am http://www.eyeorbit.org/eyeorbitgallery/details.php?image_id=233

54. Hill Health Topics A-Z - Pseudoxanthoma Elasticum Support for persons affected by pseudoxanthoma elasticum (PXE), their families and friends. National Association for pseudoxanthoma elasticum http://www.healthwise.net/hillhealth/Content/StdDocument.aspx?DOCHWID=shc29pse&S

55. VascularWeb: Pseudoxanthoma Elasticum pseudoxanthoma elasticum. (Linked to Genetics Home Reference, National Library of Medicine) This condition is characterized by accumulated deposits of http://www.vascularweb.org/_CONTRIBUTION_PAGES/Patient_Information/Links_To_Pati

Vascular Web Provided by the SOCIETY FOR VASCULAR SURGERY Search To VascularWeb Patients and Families Home Vascular Conditions, Tests, and Procedures Links to Other Sites ... Physician Search Print-Friendly Version Pseudoxanthoma Elasticum (Linked to Genetics Home Reference, National Library of Medicine) This condition is characterized by accumulated deposits of calcium and other minerals in elastic fibers, a component of connective tissue especially in the skin, eyes, and blood vessels. ... more policies, rules and regulations for the site.

56. NetDoctor.co.uk - Support Groups A group for people with pseudoxanthoma elasticum, a condition in which elastic fibres in the skin gradually harden. The group aims to http://www2.netdoctor.co.uk/directory/support_groups/sg.asp?PID=733

57. AR Online » Case Reports » CT » Pseudoxanthoma Elasticum (PXE; Grönblad-Stra Applied Radiology A journal for radiology professionals with reports on procedures utilizing MRI, CT, Ultrasound, X-Ray, Mammography, Nuclear Medicine, http://www.appliedradiology.com/case/case.asp?Id=498&IssueID=139&CatID=29&SubCat

58. PXE - Pseudoxanthoma Elasticum The following synonyms exist for gene PXE (pseudoxanthoma elasticum) PXE1. pseudoxanthoma elasticum ( PXE) is a heritable connective tissue disorder http://www.pdg.cnb.uam.es/UniPub/iHOP/gg/91540.html

Analysis of these six cases failed to show any particular biological or clinical features of rheumatoid arthritis associated PXE Abstract-9118331 We discuss the potential structural and functional significance of this mutation pattern within the context of the complex relationship between the PXE phenotype and the function of Abstract-8832901 Here we report the exclusion of five of these genes and the identification of the first mutations responsible for the development of PXE in a gene encoding a protein associated with multidrug resistance ( Abstract-8445247 Long-range PCR of exon 9 starting from sequence outside the genomic replication circumvents interference from the psiABCC6 DNA sequences and demonstrates that the Q378X mutation in the gene is associated with PXE in some families. Abstract-8867042 We found high endothelin-1 and von Willebrand factor plasma titers not only in two individuals (daughter and father) affected with Pseudoxanthoma elasticum but also in a young unaffected relative.

59. Pseudoxanthoma Elasticum (PXE) For information on pseudoxanthoma elasticum (PXE) contact. PXE International, Inc. 4301 Connecticut Avenue, NW Suite 404 Washington, DC 200082304 http://www.arthritis.org/conditions/DiseaseCenter/pxe.asp

Welcome! Log In Create Profile Search Arthritis.org Keyword advanced search Español Questions and Answers Assess Your Joint Health ... 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 Enter your email: Home About Us Contact Us Employment ... Español

60. Pseudoxanthoma Elasticum Complete online version of The Encyclopaedia of Medical Imaging including text and images from The Encyclopaedia of Medical Imaging s eight book volumes http://www.amershamhealth.com/medcyclopaedia/medical/Volume III 1/PSEUDOXANTHOMA

financial services our commitment our company Search Medcyclopaedia for: Search marked text (mark text before you click) Browse entry words starting with: A B C D ... amershamhealth.com Pseudoxanthoma elasticum, an inherited disorder of unknown pathogenesis involving the skin, eyes and cardiovascular system; it is characterized by a defect in elastic fibres and has protean clinical manifestations. The dermal lesions relate to progressive mineralization of the elastin component of individual fibers. The calcified elastin is accompanied by abnormally thickened collagen fibers and a marked increase in ground substance, resembling the collagen changes in Ehlers Danlos syndrome and osteogenesis imperfecta . The skin is thickened, redundant, deeply grooved and hyperextensible, with yellow papules between the thickened folds that give the skin a peau d'orange (orange peel) appearance. In the eyes, angioid streaks representing fissuring and scarring of the membrane beneath the retina are seen. Chorioretinitis may also be present in some patients. Other abnormalities are narrowing and occlusion of the large muscular arteries of the extremities, viscera and central nervous system. Vascular calcifications of pseudoxanthoma elasticum occur most frequently in the femoral arteries. On radiographs, the skull frequently demonstrates premature calcification of the falx, tentorium, choroid plexus and petroclinoid ligaments, with thickening of the calvaria and base of the skull. Calcification may be seen

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