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Question: 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?
Answer: 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).
Question: Is there anything I can do about perforating PXE (pseudoxanthoma elasticum) on my neck? They're red and inflamed and I can't stand it anymore!
Answer: Have you considered cosmetic surgery? PXE's do heal well.
Are you following dietary and lifestyle modifications. Example, weight control, not smoking. Pentoxifylline can help. Be sure and avoid aspirin and other non steroid medications.
Have you registered with PXE international? They met in Washington DC Sept 29th to Oct 1st 2006.
Type in PXE international Inc support group, to find a support group in your state and country. They send out a newsletter each month. New drugs are being discovered all the time, there is already a drug for the eyes.
The most inportant thing you can do is to have an annual lipid profile. And a CBC to avoid anemia.
Also try looking up Gronblad-Stranberg syndrome.
Find a support group and go from there. Good Luck
Question: 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.
Answer: http://www.pxe.org/about/genbul.html
Question: Does anyone have Pseudoxanthoma elasticum??? Or know anything about it? Please tell me all you know!?
Answer: WEBSITE: http://www.pxenape.org this is a site you should go to.
Question: Anyone have or heard of Pseudoxanthoma Elasticum (or PXE) ? If so, comment.?
Answer: Also known as Gronblad-Strandberg syndrome. Yes I know what it is. Are you being lazy and not looking up a homework question?