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Pseudoxanthoma Elasticum:     more detail

Gale Encyclopedia of Medicine: Pseudoxanthoma elasticum by Barbara J. Pettersen, 2002-01-01 Pseudoxanthoma elasticum: An entry from Thomson Gale's <i>Gale Encyclopedia of Genetic Disorders, 2nd ed.</i> by Barbara, MS, CGC Pettersen, 2005 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 Pseudoxanthoma Elasticum: An entry from Gale's <i>Gale Encyclopedia of Medicine, 3rd ed.</i> by Barbara Pettersen, 2006 Pseudoxanthoma Elasticum - A Bibliography and Dictionary for Physicians, Patients, and Genome Researchers by Philip M. Parker, 2007-07-18 Pseudoxanthoma elasticum (Clinics in dermatology) by Kenneth H Neldner, 1988 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

lists with details

21. Pseudoxanthoma Elasticum
    INCIDENCE, Rare. DISEASE ASSOCIATIONS, CHARACTERIZATION. Characterization of pseudoxanthomaelasticumlike lesions in the skin of patients with beta-thalassemia.  
    http://www.thedoctorsdoctor.com/diseases/pxe.htm
    
    Extractions: 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 balck women. These latter patients may also develop perforation. Unlike the inherited form, there is an absence of extra-cutaneous disease.

22. Angioid Streaks And Pseudoxanthoma Elasticum
    Angioid Streaks and pseudoxanthoma elasticum By K. Bailey Freund, MD Lawrence A. Yannuzzi, MD. co. What is pseudoxanthoma elasticum (PXE)?  
    http://www.vrmny.com/angioid_streaks_and_pxe.htm
    
    Extractions: 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.

23. Pseudoxanthoma Elasticum Articles, Support Groups, And Resources
    pseudoxanthoma elasticum articles, support groups, and resources for patientsfrom Med Help International (www.medhelp.org). pseudoxanthoma elasticum.  
    http://www.medhelp.org/HealthTopics/Pseudoxanthoma_Elasticum.html

24. Pseudoxanthoma Elasticum (PXE) - Information For Patients
    pseudoxanthoma elasticum information for patients. NZ DermNet is an online dermatologyresource for patients, GPs and dermatologists. pseudoxanthoma elasticum.  
    http://www.dermnetnz.org/dna.pxe/pxe.html
    
    Extractions: 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 The skin lesions of PXE are characteristic. They consist of small, yellowish bumps in rows or a lacy pattern, which may join to make large patches. The skin is soft, lax and slightly wrinkled. The patches may be slightly pebbly in appearance, which has been described as cobblestoned.

25. GeneReviews: Pseudoxanthoma Elasticum
    Your browser does not support HTML frames so you must view pseudoxanthoma elasticumin a slightly less readable form. Please follow this link to do so.  
    http://www.geneclinics.org/profiles/pxe

26. Nature Publishing Group
    2 pp 228 231 Mutations in ABCC6 cause pseudoxanthoma elasticum Arthur AB Bergen1 , Astrid S. Plomp 1, 2 , Ellen J. Schuurman 1 , Sharon Terry 5 , Martijn  
    http://www.nature.com/cgi-taf/DynaPage.taf?file=/ng/journal/v25/n2/full/ng0600_2

27. Nature Publishing Group
    Letter to the Journal. Visual loss due to cerebral infarcts in pseudoxanthomaelasticum. pseudoxanthoma elasticum a review of neurological complications.  
    http://www.nature.com/cgi-taf/DynaPage.taf?file=/eye/journal/v16/n6/full/6700173

28. Research Project Pseudoxanthoma Elasticum
    pseudoxanthoma elasticum is a heritable disease of elastic tissue characterizedprincipally by vascular and ocular changes but also by dermal manifestations.  
    http://lmp.biomed.hawaii.edu/research/projects/pseudoxanthoma_elasticum1.html
    
    Extractions: Pseudoxanthoma elasticum is a heritable disease of elastic tissue characterized principally by vascular and ocular changes but also by dermal manifestations. Accumulation of abnormal calcified elastic fibers (figure 1) in the mid-dermis produces the characteristic skin lesions (figure 2 and figure 3 ) of PXE consisting of yellowish papules and plaques and laxity with loss of elasticity which can be seen in the face, neck, axilla, antecubital fossa, popliteal fossa, groin, and periumbilical area (Uitto and Shamban, 1987 Neldner, 1988) . These cosmetic abnormalities are essentially diagnosed early in life and are therefore the primary indications for PXE as the vascular and ocular lesions at this stage are generally subtle. As a consequence, the initial diagnosis of PXE is usually performed by a dermatologist. Figure 1: Elastic fibers in PXE skin. This typical skin section of a PXE patient shows abnormal and calcified elastic fibres (black deposits, von Kossa stain) and demonstrates the extensive alterations of these fibres in the reticular dermis. Figure 2: Skin lesions: The skin manifestation of PXE are often seen on the neck and consists of yellow papules and plaques.

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

30. Pseudoxanthoma Elasticum
    pseudoxanthoma elasticum. Definition. Periodicals Sherer, DW, et al. PseudoxanthomaElasticum An Update. Dermatology 199 (1999) 37. Ringpfeil, F., et al.  
    http://www.healthatoz.com/healthatoz/Atoz/ency/pseudoxanthoma_elasticum.html
    
    Extractions: 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

31. Eye Conditions > Pseudoxanthoma Elasticum -- EyeMDLink.com
    Last Updated 9/25/2001. pseudoxanthoma elasticum. The eye is oftenaffected by the development of angioid streaks, which are splits  
    http://www.eyemdlink.com/Condition.asp?ConditionID=368

32. Roche Lexikon Medizin (4. Aufl.) - Pseudoxanthoma Elasticum
    Translate this page Pseudo xanthoma elasticum. engl. pseudoxanthoma elasticum. gelbl.Papeln u. Hautflecken infolge angeborenen Defektes des elastischen  
    http://www.gesundheit.de/roche/ro30000/r31919.html

33. IM Quiz: Pseudoxanthoma Elasticum
    pseudoxanthoma elasticum. This patient is exhibiting the findingsconsistent with the diagnosis of pseudoxanthoma elasticum. The  
    http://meded.ucsd.edu/isp/1994/im-quiz/pseudox.htm
    
    Extractions: 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:

34. Pseudoxanthoma Elasticum
    MAIN SEARCH INDEX pseudoxanthoma elasticum. pseudoxanthoma elasticumAn Update. Dermatology 199 (1999) 37. Ringpfeil, F., et al.  
    http://www.hendrickhealth.org/healthy/001133.htm
    
    Extractions: Resources 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. 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

35. PiXiE - The Pseudoxanthoma Elasticum Support Group (Specific Eye Conditions Web
    org.uk. PiXiE The pseudoxanthoma elasticum (PE) Support Group. ElspethLax, 15 Mead Close, Marlow, Buckinghamshire SL7 1HR. Tel +44  
    http://www.eyeconditions.org.uk/pixie.htm
    
    Extractions: Elspeth Lax, 15 Mead Close, Marlow, Buckinghamshire SL7 1HR Tel: +44 (0)1628 476687 E-Mail: pxeeurope@aol.com Website: www.pxe.org.uk 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: Return to SPECS Home Page The information on this page has been approved by the organisation concerned.

36. Health Library - Pseudoxanthoma Elasticum
    pseudoxanthoma elasticum. Self Help Clearinghouse. National Associationfor pseudoxanthoma elasticum. National network.  
    http://bhagh.nhshealth.org/Library/HealthGuide/SelfHelp/topic.asp?hwid=shc29pse

37. PXE Awareness In Australia
    pseudoxanthoma elasticum (PXE) is a disease of connective tissue thatis associated with various complications with blood vessels.  
    http://www.ucaqld.com.au/pxe/
    
    Extractions: Pseudoxanthoma Elasticum (PXE) is a disease of connective tissue that is associated with various complications with blood vessels. Contact: Del Gaddes National Co-ordinator Lot 5 Boronia Drive Tinnanbar Q 4650 Ph/Fax: +61 7 4129 8680 Email: pxedel@gil.com.au Sponsored by Lifeline Community Care This page has been accessed times since 17 April 97

38. Health Library - Pseudoxanthoma Elasticum
    pseudoxanthoma elasticum. Self Help Clearinghouse. National Associationfor pseudoxanthoma elasticum. National network.  
    http://yalenewhavenhealth.org/Library/HealthGuide/SelfHelp/topic.asp?hwid=shc29p

39. Health Library - Pseudoxanthoma Elasticum
    Saint Luke's Health System eLibrary. pseudoxanthoma elasticum. Self Help Clearinghouse.National Association for pseudoxanthoma elasticum.  
    http://hvelink.saint-lukes.org/library/healthguide/SelfHelp/topic.asp?hwid=shc29

40. University Of Miami School Of Medicine - Glossary - Pseudoxanthoma Elasticum
    Diseases and Conditions. pseudoxanthoma elasticum. pseudoxanthoma elasticum (PXE). Whatis pseudoxanthoma elasticum? How is pseudoxanthoma elasticum inherited?  
    http://www.med.miami.edu/patients/glossary/art.asp?articlekey=461

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