Pseudoxanthoma elasticum Dr Rob Hicks Discolouring of the skin around the neck is common in this rare condition.

In this article

What is pseudoxanthoma elasticum (PXE)? Symptoms

Causes and risk factors Treatment and recovery

Advice and support

PXE is a rare condition that many doctors don't know much about, even though it was first described more than 100 years ago. It causes the elastic fibres that are normally found in the skin, the retina of the eyes and the blood vessels to become calcified and break up, so losing their elasticity.

The most characteristic initial symptom of PXE is discolouring of the skin around the sides of the neck.

Generally, affected areas of skin appear thickened. In some people, small yellowy-orange papules between 2mm and 5mm in diameter form groups, or join together as larger plaques. When this happens, the skin takes on a cobblestone or 'plucked chicken' appearance.

These skin changes then tend to appear in the skin flexures of the elbows, groins and knees, and under the arms. As the skin loses its elasticity, it becomes soft, floppy and wrinkled, hanging in folds. Although these changes do no physical harm, emotionally they cause great distress because of their appearance. However, it's unusual for widespread areas of the skin to be affected.

Other problems are potentially more serious. Slow calcification of the thin elastic fibres of the retina at the back of the eyes eventually affects about 60 per cent of PXE sufferers, usually by the time they reach middle age. Sometimes this leads to a complete loss of central vision.

In some cases, the blood vessels are affected, which makes heart attacks and strokes more likely. The painful condition of the legs called intermittent claudication - where blood can't get to the muscles easily to deliver oxygen to the tissues - is also more common. Gastrointestinal bleeding is another problem that some people with PXE experience.

PXE is an inherited disorder. Recently the gene responsible was discovered on the short arm of chromosome 16. Autosomal dominant and autosomal recessive patterns of inheritance have been described, but recent studies suggest that inheritance does in fact only follow a recessive pattern.

PXE is estimated to affect one in 100,000 people worldwide. It affects women twice as often as men and, in most cases, symptoms tend to become apparent at about 13 years of age. However, it has been diagnosed as early as two and as late as 20.

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 (high calcium intake, especially early in life, has been linked to more severe disease).

PXE Support group

Website: www.pxe.org.uk

This article was last medically reviewed by Dr Trisha Macnair in August 2009.