Connective tissue is the tough, often fibrous tissue that binds the body's structures together and provides support and elasticity.
Pseudoxanthoma elasticum causes stiffening of the connective tissue fibers that enable tissue to stretch and then spring back into place (elastic fibers). Elastic fibers are in the skin and various other tissues throughout the body, including blood vessels. The blood vessels may stiffen, losing their normal ability to expand and allow more blood to flow as needed. Stiffness also prevents the blood vessels from contracting.
The skin of the neck, underarms, and groin and around the navel eventually becomes thick, grooved, inflexible, and loose. Yellowish, pebbly bumps make the skin appear similar to an orange or a plucked chicken. The change in appearance may be mild and overlooked during early childhood but becomes more noticeable as the child ages.
Stiff blood vessels lead to complications such as high blood pressure. Nosebleeds and bleeding in the brain, uterus, and intestine may occur. Bleeding may continue for prolonged periods. Too little blood flow may result in chest pain (angina), a heart attack, and leg pain while walking (intermittent claudication). Children may develop atherosclerosis (deposits of fatty material in the arteries) at a young age.
Damage to the back of the eye (retina) can cause tiny cracks in the retina (called angioid streaks), hemorrhages, and gradual loss of vision.
Doctors base the diagnosis of pseudoxanthoma elasticum on the results of a physical examination, an eye examination, and the results of a skin biopsy (removal of a tissue sample for examination under a microscope).
Because there is no cure for pseudoxanthoma elasticum, treatment is aimed at preventing and treating complications and injuries. People should avoid drugs that may cause stomach or intestinal bleeding, such as aspirin, nonsteroidal anti-inflammatory drugs (NSAIDs), and anticoagulants (such as warfarin). Levels of fats (lipids) in the blood should be well controlled with diet and sometimes drugs to reduce the risk of developing early atherosclerosis and other blood vessel complications.
Treatment with drugs that reduce the growth of blood vessels (such as bevacizumab) may help people who have angioid streaks in the eyes.
People with pseudoxanthoma elasticum should avoid contact sports because injury to the eye is a risk.
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