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.
(See also Overview of Hereditary Connective Tissue Disorders Overview of Connective Tissue Disorders in Children Connective tissue is the tough, often fibrous tissue that binds the body's structures together and provides support and elasticity. Muscles, bones, cartilage, ligaments, and tendons are built... read more .)
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.
Complications of pseudoxanthoma elasticum
Stiff blood vessels lead to complications such as high blood pressure High Blood Pressure High blood pressure (hypertension) is persistently high pressure in the arteries. Often no cause for high blood pressure can be identified, but sometimes it occurs as a result of an underlying... read more . Nosebleeds Nosebleeds Some people get nosebleeds rather often, and others rarely get them. There may be just a trickle of blood or a strong stream. If people swallow the blood, they often vomit it because blood is... read more 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 Angina Angina is temporary chest pain or a sensation of pressure that occurs while the heart muscle is not receiving enough oxygen. A person with angina usually has discomfort or pressure beneath the... read more ), a heart attack Acute Coronary Syndromes (Heart Attack; Myocardial Infarction; Unstable Angina) Acute coronary syndromes result from a sudden blockage in a coronary artery. This blockage causes unstable angina or heart attack (myocardial infarction), depending on the location and amount... read more , and leg pain while walking (intermittent claudication Symptoms Occlusive peripheral arterial disease is blockage or narrowing of an artery in the legs (or rarely the arms), usually due to atherosclerosis and resulting in decreased blood flow. Symptoms depend... read more ). Children may develop atherosclerosis Atherosclerosis Atherosclerosis is a condition in which patchy deposits of fatty material (atheromas or atherosclerotic plaques) develop in the walls of medium-sized and large arteries, leading to reduced or... read more (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 Echocardiography and Other Ultrasound Procedures Ultrasonography uses high-frequency (ultrasound) waves bounced off internal structures to produce a moving image. It uses no x-rays. Ultrasonography of the heart (echocardiography) is one of... read more and computed tomography Computed Tomography (CT) In computed tomography (CT), which used to be called computed axial tomography (CAT), an x-ray source and x-ray detector rotate around a person. In modern scanners, the x-ray detector usually... read more (CT) of the head, are done to evaluate associated conditions.
Prognosis of 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. 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 Treatment Dyslipidemia is a high level of lipids (cholesterol, triglycerides, or both) or a low high-density lipoprotein (HDL) cholesterol level. Lifestyle, genetics, disorders (such as low thyroid hormone... read more 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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