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Pseudoxanthoma Elasticum

By

Frank Pessler

, MD, PhD, Braunschweig, Germany

Last full review/revision May 2019| Content last modified Jun 2019
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NOTE: This is the Consumer Version. DOCTORS: Click here for the Professional Version
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Topic Resources

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 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

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.

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. Too little blood flow may result in chest pain (angina), a heart attack, and leg pain while walking (intermittent claudication). Bleeding may continue for prolonged periods.

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

  • 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 associated conditions.

Prognosis

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

  • 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. People should avoid drugs that may cause stomach or intestinal bleeding, such as aspirin, nonsteroidal anti-inflammatory drugs (NSAIDs), and anticoagulants (such as warfarin).

Treatment with drugs that reduce the growth of blood vessels (such as bevacizumab) may help people who have eye (retinal) disease.

People with pseudoxanthoma elasticum should avoid contact sports because injury to the eye is a risk.

Drugs Mentioned In This Article

Generic Name Select Brand Names
AVASTIN
COUMADIN
No US brand name
NOTE: This is the Consumer Version. DOCTORS: Click here for the Professional Version
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