Pseudoxanthoma elasticum is a rare hereditary disorder of connective tissue that causes abnormalities in the skin, eyes, and blood vessels.
Pseudoxanthomaelasticum causes stiffening of the 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. Too little blood flow may result in chest pain (angina) or 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 hemorrhages and gradual loss of vision.
Doctors base the diagnosis on the results of a physical examination.
Blood tests and imaging studies, such as echocardiography (see Echocardiography and Other Ultrasound Procedures) and computed tomography (CT—see Computed Tomography) of the head, are done to evaluate associated conditions.
There is no cure for pseudoxanthomaelasticum nor any way to correct the abnormalities in the connective tissue. Complications may limit a person's life span.
Because there is no cure for pseudoxanthomaelasticum, treatment is aimed at preventing complications. People should avoid drugs that may cause stomach or intestinal bleeding, such as aspirin, other nonsteroidal anti-inflammatory drugs (NSAIDs), and anticoagulants (such as warfarin). People with pseudoxanthomaelasticum should avoid contact sports because injury to the eye is a risk.
Last full review/revision December 2014 by David D. Sherry, MD; Frank Pessler, MD, PhD