Musculoskeletal Disorders: Pseudoxanthoma Elasticum

Description

Pseudoxanthoma elasticum ( PXE ) is a hereditary connective tissue disorder affecting the skin, eyes, and blood vessels. PXE is a rare disease. Its incidence has been estimated at 1 in 25,000-50,000.

Symptoms and Signs

PXE affects the skin and eyes primarily. Skin changes are sometimes the first indication that a person has pseudoxanthoma elasticum PXE. The affected individual might notice small bumps, or lesions, on the skin. Typically, these skin changes appear first on the sides of the neck and then progress to other parts of the body, but other sites may be involved. The skin lesions are do not generally cause any problems.
It is thought that most affected individuals, particularly those who have had PXE for more than 10 years, develop angioid streaks associated with calcification (build up of calcium) of elastin-rich tissues in the eye. Angioid streaks do not necessarily affect vision, however further changes to the eye may cause loss in central vision. A person with PXE rarely, if ever, becomes totally blind, however they may lose central vision to the extent that they become legally blind, and able to see only through peripheral vision. Every individual affected by PXE should have an annual examination by an ophthalmologist (eye doctor).
PXE can sometimes effect the elastic tissue found in blood vessels and arteries. This calcification can sometimes lead to a narrowing of the veins and arteries. The affected individual might have weak or absent pulses in their extremities. They also may have what is called intermittent claudication , a blockage of arteries in the legs or arms.

Diagnosis and Treatment

The definitive tool to diagnose the disorder is a skin biopsy done by a dermatologist. In patients found positive for PXE, the examination of the skin under the microscope will show the elastic fibres of the skin to be clumped and fragmented, and to include small amounts of calcium.
Both the age of onset and the age of detection vary greatly from one individual to another, as does the extent of skin involvement. Cosmetic surgery may be used to tighten the skin if this effect is considered unsightly. Sometimes laser surgery is suggested to seal the small blood vessels that may leak in the retina of the eye. There is some controversy about the use of laser surgery for PXE patients. If the legs are effected (e.g. intermittent claudication) the individual may feel pain when walking. The best treatment for this is regular exercise to help keep blood pathways open.

The information in this page is presented in summarised form and has been taken from the following source(s):
1. Pseudoxanthoma Elasticum (PXE) International: http://www.pxe.org/