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 that helps remove toxins from cells. Because of the mutations, calcium and other minerals abnormally build-up in the connective tissue fibers that enable tissue to stretch and then spring back into place (elastic fibers).
Pseudoxanthoma elasticum causes stiffening of 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, stiff, and loose. Yellowish, pebbly bumps make the skin appear similar to the texture of 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 long periods. Too little blood flow may result in chest pain (angina), a heart attack, mitral valve prolapse, 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 computed tomography (CT) of the heart and imaging of the brain, are done to evaluate complications.
Genetic testing is also done.
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.
People should avoid medications that may cause stomach or intestinal bleeding, such as aspirin, nonsteroidal anti-inflammatory drugs (NSAIDs), and anticoagulants (such as warfarin). People should avoid medications 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 medications to reduce the risk of developing atherosclerosis at a young age and other blood vessel complications.
Treatment with medications that reduce the growth of blood vessels (such as bevacizumab) may help people who have angioid streaks in their eyes.Treatment with medications that reduce the growth of blood vessels (such as bevacizumab) may help people who have angioid streaks in their eyes.
If a pregnant person has pseudoxanthoma elasticum and abnormal blood vessels in the eye, doctors may recommend a cesarean delivery (C-section).
People with pseudoxanthoma elasticum should avoid contact sports because of the risk of retinal hemorrhage.
Prognosis for Pseudoxanthoma Elasticum
Complications of pseudoxanthoma elasticum may limit a person's life span and impact quality of life.
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