Pseudoxanthoma Elasticum

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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, and blood vessels. Interestingly, while elastin is the major component of ligaments, the ligaments are not apparently affected by 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.

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. The face is not affected by PXE. The doctor can often see abnormalities in the back of the eye 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.

PXE is an inherited disorder. Recently the gene responsible was discovered on the short arm of chromosome 16. It's called multi-drug resistance-like protein or MRP6.

There's no cure for PXE. However, there are plenty of ways to minimise the problems it causes. Skin can be camouflaged with make-up, or some people may choose to undergo cosmetic surgery.

The possible effects of PXE on circulation and the heart means it's important sufferers don't smoke, keep to their ideal weight and eat a healthy low-fat diet that is rich in fruit and vegetables. Their diet should contain a moderate amount of calcium and currently experts recommend that this should not exceed 800mg of calcium a day.

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