Pseudoxanthoma elasticum is a rare hereditary disorder of connective tissue that causes abnormalities in the skin, eyes, and blood vessels.
Connective tissue is the tough, often fibrous tissue that binds the body's structures together and provides support and elasticity. Pseudoxanthoma elasticum is caused by mutations in a gene.
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.
Symptoms of Pseudoxanthoma Elasticum
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.
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Complications of pseudoxanthoma elasticum
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.
Diagnosis of Pseudoxanthoma Elasticum
A doctor's evaluation
Blood tests, imaging studies, and skin biopsy
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).
Blood tests and imaging studies, such as echocardiography and computed tomography (CT) of the head, are done to evaluate complications.
Prognosis for Pseudoxanthoma Elasticum
There is no cure for pseudoxanthoma elasticum nor any way to correct the abnormalities in the connective tissue.
Complications may limit a person's life span.
Treatment of Pseudoxanthoma Elasticum
Prevention and treatment of complications and injuries
Because there is no cure for pseudoxanthoma elasticum, treatment is aimed at preventing and treating complications and injuries.
Levels of fats (lipids) in the blood should be well controlled with diet and sometimes medications to reduce the risk of developing early atherosclerosis and other blood vessel complications.
People with pseudoxanthoma elasticum should avoid contact sports because injury to the eye is a risk.
