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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

81. EnableNet - Enablenet.browse.browse
Disability Information Disabilities, Diseases and Dis Multiple Disabilities pseudoxanthoma elasticum pseudoxanthoma elasticum Matching Resources.
http://www.enable.net.au/index.cfm?fuseaction=enablenet.browse.browse&catid=1954

82. Pseudoxanthoma Elasticum | AHealthyAdvantage
You are here Home Health A to Z pseudoxanthoma elasticum. PseudoxanthomaElasticum. Organizations National Association for pseudoxanthoma elasticum.
http://lifewise.ahealthyadvantage.com/topic/topic100587360
You are here: Home Health A to Z Pseudoxanthoma Elasticum
Pseudoxanthoma Elasticum
Lica, Lorraine
Below:
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.

83. Skin And Connective Tissue Diseases
pseudoxanthoma elasticum pseudoxanthoma elasticum Int'l, Inc. for PseudoxanthomaElasticum; PXE Awareness in Australia. Lupus Erythematosus, Systemic
http://www.mic.ki.se/Diseases/c17.html
search help staff
Skin and Connective Tissue Diseases
Patients and laypersons looking for guidance among the target sources of this collection of links are strongly advised to review the information retrieved with their professional health care provider. Alphabetical List of Diseases

Search PubMed at NCBI/NLM

84. A Young Woman Complaining Of Loose Skin - Discussion
A Young Woman Complaining of Loose Skin pseudoxanthoma elasticum andPlastic Surgery. Plastic surgery and pseudoxanthoma elasticum.
http://dermatlas.med.jhmi.edu/derm/cme/ViewCase2.cfm?Id=54

85. Vcc 20/400, PH NI C Gross 3/3 P 4 Mild L. RAPD Ta 15 20/400, PH
Wilmer Professor's Rounds Case 1. Angioid Streaks and pseudoxanthoma elasticum.Presented by Anthony Lombardo, MD, Ph.D. pseudoxanthoma elasticum (PXE).
http://www.wilmer.jhu.edu/training/profrounds/case11/case11.htm
Angioid Streaks and Pseudoxanthoma Elasticum Presented by: Anthony Lombardo, M.D., Ph.D. Case Presentation 61 y.o. black female with poor vision. CLINICAL FEATURES Irregular, spokelike, curvilinear breaks in Bruch's membrane.
Radiate outward from the peripapillary area in all directions.
Almost always bilateral. Red to dark brown in color; gray if fibrovascular tissue is present.
Hyperpigmentation or atrophy of retinal pigment epithelium (RPE) may occur at the margin of a streak. Streaks asymptomatic, but complications cause visual loss.
Main cause of visual loss is choroidal neovascularization (CNVM), RPE detachment, and macular degeneration.
In one series, macular degeneration in 72%, exudative maculopathy in 57%, atrophic maculopathy in 14%.
In another series, macular degeneration associated with length of streak and distance of streak from fovea. FLUORESCEIN ANGIOGRAPHIC FINDINGS Most observe early hyperfluorescence of streaks with late staining. Others observe hypofluorescence of streaks themselves with hyperfluorescence of margins of streaks, which stain late.
Theory is underlying choriocapillaris may separate and produce nonperfusion area of streak itself, which may cause hypofluorescence.

86. Directory :: Look.com
pseudoxanthoma elasticum (4) See Also. Sites. MyLifePath An in depthlook at pseudoxanthoma elasticum. NORD pseudoxanthoma elasticum
http://www.look.com/searchroute/directorysearch.asp?p=525022

87. Pseudoxanthoma Elasticum | Vhihealthe
pseudoxanthoma elasticum. Periodicals Sherer, DW, et al. pseudoxanthoma elasticumAn Update. Dermatology 199 (1999) 37. Ringpfeil, F., et al.
http://www2.vhihealthe.com/topic/topic100587360
You are here: Home Health A to Z
Pseudoxanthoma Elasticum
Lica, Lorraine Below:
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.

88. Dermatology Online Atlas (DOIA) Erlangen
Feedback Dermatology Online Atlas (DOIA) Based on the Erlanger ImageDatabase. pseudoxanthoma elasticum. Erlanger diagnosis code 757390
http://www.medic.mie-u.ac.jp/derma/bilddb/diagnose/i757390.htm
Dermatology Online Atlas (DOIA)
Based on the Erlanger Image Database
Pseudoxanthoma elasticum
Erlanger diagnosis code: Synonyms:
  • Elastorrhexis generalisata et systemica
  • Grönblad-Strandberg-Syndrom
  • Darier-Grönblad-Strandberg-Syndrom
Andreas Bittorf , File generated on 1996/03/06, 1st version of script 1994/12

89. Abstracts, JCMS, Vol. 3(3)
Translate this page Genetic Studies in Skin Disorders Recent Advances in Gene Mapping of Skin Diseasespseudoxanthoma elasticum A Satisfying Sibling Study. Sherri J. Bale. Abstract.
http://www.dermatology.org/jcms/abstracts_3_3/154.html
Genetic Studies in Skin Disorders
Recent Advances in Gene Mapping of Skin Diseases
Pseudoxanthoma Elasticum: A Satisfying Sibling Study Sherri J. Bale
Abstract
Background : A review of the recent progress made in mapping of the hereditary skin disease pseudoxanthoma elasticum is presented. Methods : Affected sib pair methods, parametric linkage analysis, and linkage heterogeneity tests are reviewed as applied to the effort to identify the location of the pseudoxanthoma elasticum gene. Results : Families segregating either autosomal dominant or autosomal recessive pseudoxanthoma elasticum mapped to chromosome 16p13.1. Conclusion : There is a gene for pseudoxanthoma elasticum on chromosome 16p. The underlying molecular defect remains to be elucidated.
Sommaire
Antécédents : Revue des progrès récents du "mapping" génétique du pseudoxanthome élastique, affection cutanée héréditaire. Méthodes : Revue des études d'individus affectés parmi la fratrie, des analyses de liaisons paramétriques et des tests d'hétérogénéité des liaisons afin de localiser le gène responsable du pseudoxanthome élastique. Résultats : La ségrégation entre transmission familiale autosomique dominante et autosomique récessive du pseudoxanthome élastique semble liée au chromosome 16p13.1.

90. Pseudoxanthoma Elasticum
pseudoxanthoma elasticum. Change in neck, axilla, develop in teens, progress.Also antecubital. Can be dominant or recessive. May not come on until 40's.
http://www.docderm.com/pearls/pseudoxanthoma_elasticum.htm
Pseudoxanthoma Elasticum Change in neck, axilla, develop in teens, progress Also antecubital Can be dominant or recessive May not come on until 40's Skin - fragmented elastic fibers, calcified in deep derm; perforating elastoma (=EPS) Eye - angioid streaks are gray, retinal hemorrhage Vascular - GI bleeding with/without identifiable pathology; increased BP early in life, MI; decreased pulses, arterial calcification by age 30 Type I Dominant - most severe vascular Type II Dominant - eye changes Type I Recessive - classic type, most common

91. Richard L. Lindstrom, MD - Eye Conditions - Pseudoxanthoma
Richard L. Lindstrom, MD. Home Conditions pseudoxanthoma elasticum,
http://drlindstrom.eyemdlink.com/Condition.asp?ConditionID=368

92. Abcc6
Rare hereditary diseases standard screening for mutations. ABCC6mutations - pseudoxanthoma elasticum. pseudoxanthoma elasticum
http://www.gene-analysis-service.de/abcc6.htm
Home About us Services Custom ... Deutsche version Rare hereditary diseases - standard screening for mutations ABCC6 mutations - Pseudoxanthoma elasticum Pseudoxanthoma elasticum (PXE) (Grönblad-Strandberg-Syndrom or Elastorrhexis generalisata) is a rare hereditary disorder of the connective tissue with an estimated frequency of 1 affected person in 70000-160000. Prominent symptoms are yellow papules and plaques on the neck, armpits and other folds of the skin. Calcification of elastic fibers caused by PXE manifests itself in the eyes (angioid streaks and hemorrhagic maculopathy), gastrointestinal tract (bleeding), kidneys (calcification) and cardiovascular system (coronary artery disease, hypertension, mitral stenosis and mitral valve prolapse). Excluding isolated cases, the disorder is inherited in both an autosomal recessive and autosomal dominant way. Recently, mutations in the transmembrane ATP-binding cassette transporter gene ABCC6 have been recognized as the cause of Pseudoxanthoma elasticum This gene, also known as MRP6, encodes a 1503 amino acid protein and is divided over 31 exons on 76 kB of chromosome 16. Most pathogenic nonsense and missense mutations have been detected in exons 24 and 27 of ABCC6.

93. Elizabeth A. Davis, MD - Eye Conditions - Pseudoxanthoma
Elizabeth A. Davis, MD. Home Conditions pseudoxanthoma elasticum,
http://drdavis.eyemdlink.com/Condition.asp?ConditionID=368

94. Dee's List Of International RD Organisations
pseudoxanthoma elasticum. National Association for pseudoxanthoma elasticum US organisation. PseudoxanthomaElasticum (PXE) Home Page Home of PXE International.
http://www.netserv.net.au/doonbank/osorgs.html
Dee's : International Organisations
Site Map
Search Help
International RD Organisations
Retinal degeneration affects people from all over the world. Spreading the word in different languages, these sites feature everything from great research links to practical tips and humour. Regardless of where you live they are well worth a visit! Retinal Dystrophy - International
Retinal Dystrophy - Regional Organisations

Choroideremia
Diabetic Retinopathy ... Retinoblastoma
Retinal Dystrophy
Most of the organisations listed immediately below seek to raise funds for research into all forms of retinal degeneration and to offer support to the people affected by them.
International and National Organisations
Retina International
Formerly the International Retinitis Pigmentosa Association. Contact details for RD organisations around the world are available here.
Spanish RP association.
Associazione Italiana per la Retinite Pigmentosa
The British RP Society
Fighting Blindness (Ireland)
News on the latest research and fundraising efforts.
Finnish Retinitis Association
Information and support for Finnish people with RD.

95. Short Description Of Cell Lines. Pathology Pseudoxanthoma
Version 4.200205, Short description of cell lines. Pathology pseudoxanthomaelasticum *264800 OMIM record. By selecting the cell
http://www.biotech.ist.unige.it/cldb/pat7.html

96. Conditions And Diseases: Genetic Disorders: Pseudoxanthoma Elasticum | Treasure
Information on Conditions and Diseases, Genetic Disorders, PseudoxanthomaElasticum and much more Treasure Coast Health. Find Doctors
http://treasurecoasthealth.com/treasurecoasthealth.php/Health/Conditions_and_Dis
Find Doctors on the Treasure Coast Select Specialty Ambulatory Care Anesthesiology Cardiology Dermatology Emergency Medicine Endocrinology Family Practice Gastroenterology Hematology/Oncology Infectious Diseases Internal Medicine Maxillofacial Surgery Neonatology Nephroology Neurology Neurosurgery Obstetrics/Gynecology Ophthalmology Orthopedic Surgery Otolaryngology Pathology Pediatics Physical Medicine Plastic Surgery Podiatry Psychiatry Psychology Pulmonary Radiation Oncology Radiology Rheumatology Surgery Thoracic Surgery Urology Vascular Surgery Select City Sebastian Palm Bay Vero Beach Fort Pierce Okeechobee Port St. Lucie Jensen Beach Stuart Palm City Hobe Sound Loxahatchee MENU Home Doctor Directory Health Resources Women Only ... About Us
Conditions and Diseases: Genetic Disorders: Pseudoxanthoma Elasticum
See also:

97. Harvard Medical Web

http://www.med.harvard.edu/programs/PXE/
This page has moved!
If you are not automatically forwarded, please visit the new location: http://www.pxe.org

98. Arch Ophthalmol -- Page Not Found
Chorioretinal Vascular Abnormalities Associated With Angioid Streaks and PseudoxanthomaElasticum Author Information Michel Secrétan, MD; Léonidas Zografos
http://archopht.ama-assn.org/issues/v116n10/abs/ecs7998.html
Select Journal or Resource JAMA Archives of Dermatology Facial Plastic Surgery Family Medicine (1992-2000) General Psychiatry Internal Medicine Neurology Ophthalmology Surgery MSJAMA Science News Updates Meetings Peer Review Congress
The page you requested was not found. The JAMA Archives Journals Web site has been redesigned to provide you with improved layout, features, and functionality. The location of the page you requested may have changed. To find the page you requested, click here HOME CURRENT ISSUE PAST ISSUES ... HELP Error 404 - "Not Found"

99. Stries Angioides SNOF

http://www.snof.org/maladies/stries.html
Accueil Annonces Art Histoire ... Homepage
Rev 9-10-2001
jmm
rares stries calcium
Clinique
Knapp taches saumon ', et un aspect en ' peau d'orange ' en temporal de la macula. Les stries angioides sont des craquelures de la membrane de Bruch angiographie
Complications
venant de la choroide.
Etiologies
(PXE). Cette association constitue le syndrome de micropapules vaisseaux digestif nombreuses.
  • Maladie de Paget Syndrome de Marfan : homocystinurie Syndrome d' Ehlers-Danlos Saturnisme
ABC-C6 A denosine triphosphate B inding C
Traitement
Sites web
National Association for Pseudoxanthoma Elasticum (en anglais) National Marfan Foundation
Bibliographie
Altman, L. K.; Fialkow, P. J.; Parker, F.; Sagebiel, R. W. : Pseudoxanthoma elasticum: an underdiagnosed genetically heterogeneous disorder with protean manifestations. Arch. Intern. Med. 134: 1048-1054, 1974. Bergen, A. A. B.; Plomp, A. S.; Schuurman, E. J.; Terry, S.; Breuning, M.; Dauwerse, H.; Swart, J.; Kool, M.; van Soest, S.; Baas, F.; ten Brink, J. B.; de Jong, P. T. V. M. : Mutations in ABCC6 cause pseudoxanthoma elasticum. Nature Genet. 25: 228-231, 2000. Clarkson, J. G.; Altman, R. D.

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