have you ever heard of PseudoXanthoma Elasticum?
I was diagnosed with PseudoXanthoma Elasticum by my dermatologist, based on a biopsy of bumpy skin. Apparently, it is genetic and relatively rare. Aside from bumpy and discolored skin in some places, and retinal streaking, are there any other symptoms I should be aware of?
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1 Glossary Pseudoxanthoma Elasticum Center | Next
Pseudoxanthoma Elasticum
(PXE)
Medical Author: William C. Shiel Jr., MD, FACP, FACR
What is pseudoxanthoma elasticum?
How is pseudoxanthoma elasticum inherited?
What are symptoms of pseudoxanthoma elasticum?
What is the treatment for patients with pseudoxanthoma elasticum?
What is pseudoxanthoma elasticum?
The connective tissues are the structural portions of the body that essentially hold the body cells together. These tissues form a framework or matrix for the body. The connective tissues are composed of 2 major structural molecules, collagen and elastin. There are many different collagen protein types which vary in abundance depending on body area. Elastin is another protein which has the capability of stretching and returning to original length like a spring.
Pseudoxanthoma elasticum (PXE) is a rare disorder of degeneration of the elastic fibers with tiny areas of calcification in the skin, back of the eyes (retinae), and blood vessels. Interestingly, while elastin is the major component of ligaments (tissues which attach bone to bone), the ligaments are not apparently affected by PXE.
How is pseudoxanthoma elasticum inherited?
PXE is inherited from the parents, either as an autosomal recessive or as an autosomal dominant trait. Identification of the gene responsible for PXE can facilitate the determination of the exact patterns of inheritance. Pseudoxanthoma elasticum is an inherited disorder of elastin.
What are symptoms of pseudoxanthoma elasticum?
PXE typically causes yellow-white small raised areas in the skin folds, often appearing in the second or third decades of life. These skin abnormalities frequently appear on the neck, armpits, and other areas that bend a great deal (referred to as flexure areas). The face is not affected by PXE. The doctor can often see abnormalities in the back of the eye (retinae) called angioid streaks, which are tiny breaks in the elastin-filled tissue there. These eye abnormalities can lead to blindness.
Other areas that can be affected in PXE include the heart which can be affected by atherosclerosis and mitral valve prolapse. Small blood vessels are abnormally fragile in patients with PXE because the blood vessel walls contain elastin and are weakened. This can lead to abnormal bleeding in such areas as the bowel and, very rarely, the uterus. Impairment of circulation to the legs can lead to pains in the legs while walking (claudication). (
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Important--Pseudoxanthoma Elasticum?
Hey guys,
I have to give an oral presentation tomorrow on Pseudoxanthoma Elasticum... i know the basics pretty much, but any interesting/personal experience would help me LOTS. Also, concerning pregnancy, does the stomach remain stretched out after giving birth because of the lack of elasticity? Thanks!
I mean pregnancy in people with the disease... since they are initially lacking the elasticity fibers in their body.
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Do you know anything about Pseudoxanthoma Elasticum (PXE)??? Please give me all the information you know!!!?
Pseudoxanthoma is a genetic skin disease, also called Grönblad-Strandberg-Touraine syndrome and systemic elastorrhexis.
I have this disease and I need to know all I can about it. And yes, I've used all the search engines, so don't tell me to search yahoo.
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http://www.pxe.org/about/genbul.html (
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Anyone have or heard of Pseudoxanthoma Elasticum (or PXE) ? If so, comment.?
Also known as Gronblad-Strandberg syndrome. Yes I know what it is. Are you being lazy and not looking up a homework question? (
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Does anyone have Pseudoxanthoma elasticum??? Or know anything about it? Please tell me all you know!?
WEBSITE: http://www.pxenape.org this is a site you should go to. (
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Important--Psuedoxanthoma Elasticum?
I have to give an oral presentation tomorrow on Pseudoxanthoma Elasticum... i know the basics pretty much, but any interesting/personal experience would help me LOTS. Also, concerning pregnancy, does the stomach remain stretched out after giving birth because of the lack of elasticity? Thanks!
----------
What is pseudoxanthoma elasticum?
The connective tissues are the structural portions of the body that essentially hold the body cells together. These tissues form a framework or matrix for the body. The connective tissues are composed of two major structural molecules, collagen and elastin. There are many different collagen protein types which vary in abundance depending on body area. Elastin is another protein which has the capability of stretching and returning to original length like a spring.
Pseudoxanthoma elasticum (PXE) is a rare disorder of degeneration of the elastic fibers with tiny areas of calcification in the skin, back of the eyes (retinae), and blood vessels. Interestingly, while elastin is the major component of ligaments (tissues which attach bone to bone), the ligaments are not apparently affected by PXE.
How is pseudoxanthoma elasticum inherited?
PXE is inherited from the parents, either as an autosomal recessive or as an autosomal dominant trait. Identification of the gene responsible for PXE can facilitate the determination of the exact patterns of inheritance. Pseudoxanthoma elasticum is an inherited disorder of elastin.
What are symptoms of pseudoxanthoma elasticum?
PXE typically causes yellow-white small raised areas in the skin folds, often appearing in the second or third decades of life. These skin abnormalities frequently appear on the neck, armpits, and other areas that bend a great deal (referred to as flexure areas). The face is not affected by PXE. The doctor can often see abnormalities in the back of the eye (retinae) called angioid streaks, which are tiny breaks in the elastin-filled tissue there. These eye abnormalities can lead to blindness.
Other areas that can be affected in PXE include the heart which can be affected by atherosclerosis and mitral valve prolapse. Small blood vessels are abnormally fragile in patients with PXE because the blood vessel walls contain elastin and are weakened. This can lead to abnormal bleeding in such areas as the bowel and, very rarely, the uterus. Impairment of circulation to the legs can lead to pains in the legs while walking (claudication).
What is the treatment for patients with pseudoxanthoma elasticum?
There is no cure for PXE. Treatment of patients with PXE involves monitoring organ function and consequences of the effects of the weakened elastin fibers in the body as well as measures to prevent injury and promote overall health.
Pseudoxanthoma Elasticum At A Glance
* Pseudoxanthoma elasticum (PXE) is a rare disorder of degeneration of the elastic fibers.
* PXE is inherited from the parents.
* PXE typically causes yellow-white small raised areas in the skin folds (flexure areas).
* PXE can affect areas of the body other than the skin.
* Treatment of PXE involves monitoring by the doctor and measures to prevent injury and promote overall health. (
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Both of my sistes have Pseudoxanthoma which has caused 1 of them to loose her sight.?
Anyone else out there have this problem? I understand it is genetic and is a problem with elasticity.
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the problem is that you can find connective tissue all over the body so the affection sometimes is huge , and the eye is no exception as the lesions there may lead to bleeding and scaring in places like the retina will have dire consequences
sorry for ur sister , feel free to e-mail me when you want (
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psuedoxantham elasticum?
medical condition pixie ix support group for condition
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After much searching found this.
Diagnosis
The presence of calcium in elastic fibers, as revealed by microscopic examination of biopsied skin, unequivocally establishes the diagnosis of PXE.
Treatment
PXE cannot be cured, but plastic surgery can treat PXE skin lesions, and laser surgery is used to prevent or slow the progression of vision loss. Excessive blood loss due to bleeding into the gastrointestinal tract or other organ systems may be treated by transfusion. Mitral valve prolapse (protrusion of one or both cusps of the mitral heart valve back into the atrium during heart beating) can be corrected by surgery, if necessary.
Measures should be taken to prevent or lessen cardiovascular complications. People with PXE should control their cholesterol and blood pressure, and maintain normal weight. They should exercise for cardiovascular health and to prevent or reduce claudication later in life. They should also avoid the use of tobacco, thiazide anti-hypertensive drugs, blood thinners like coumadin, and nonsteroidal anti-inflammatory drugs like aspirin and ibuprofen. In addition, they should avoid strain, heavy lifting, and contact sports, since these activities could trigger retinal and gastrointestinal bleeding.
People with PXE should have regular eye examinations by an ophthalmologist and report any eye problems immediately. Regular check-ups with a physician are also recommended, including periodic blood pressure readings.
Some people have advocated a calcium-restricted diet, but it is not yet known whether this aids the problems brought about by PXE. It is known, however, that calcium-restriction can lead to bone disorders.
Prognosis
The prognosis is for a normal life span with an increased chance of cardiovascular and circulatory problems, hypertension, gastrointestinal bleeding, and impaired vision. However, now that the gene for PXE has been identified, the groundwork for research to provide effective treatment has been laid. Studying the role of the ABCC6 protein in elastic fibers may lead to drugs that will ameliorate or arrest the problems caused by PXE.
Genetic tests are now available that can provide knowledge needed to both diagnose PXE in symptomatic persons and predict it prior to the onset of symptoms in persons at risk. Prenatal diagnosis of PXE, by testing fetal cells for mutations in the ABCC6 gene, can be done in early pregnancy by procedures such as amniocentesis or chorionic villus sampling. For most people, PXE is compatible with a reasonably normal life, and prenatal diagnosis is not likely to be highly desired.
Genetic testing to predict whether an at-risk child will develop PXE may be helpful for medical management. A child who is found to carry a mutation can be monitored more closely for eye problems and bleeding, and can begin the appropriate lifestyle changes to prevent (
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