Scleroderma (sklair-oh-DUR-muh), also known as systemic sclerosis, is a group of rare diseases that involve the hardening and tightening of the skin. It may also cause problems in the blood vessels, internal organs and digestive tract.
Scleroderma is often categorized as "limited" or "diffuse," which refers only to the degree of skin involvement. Both types can involve any of the other vascular or organ problems. Localized scleroderma, also known as morphea, affects only the skin.
While there is no cure for scleroderma, treatments can ease symptoms, slow progression and improve quality of life.
Scleroderma's signs and symptoms vary from person to person, depending on which parts of the body are affected.
Skin-related signs and symptoms
Nearly everyone who has scleroderma experiences a hardening and tightening of the skin.
The first parts of the body to be affected are usually the fingers, hands, feet and face. In some people, the skin thickening can also involve the forearms, upper arms, chest, abdomen, lower legs and thighs. Early symptoms may include swelling and itchiness. Affected skin can become lighter or darker in color and may look shiny because of the tightness.
Some people also experience small red spots, called telangiectasia, on their hands and face. Calcium deposits can form under the skin, particularly at the fingertips, causing bumps that can be seen on X-rays.
Raynaud's phenomenon is common in scleroderma and occurs because of an inappropriate and exaggerated contraction of the small blood vessels in the fingers and toes in response to the cold or emotional distress. When this happens, the digits may turn white, blue or red, and feel painful or numb. Raynaud's phenomenon also can occur in people who don't have scleroderma.
Scleroderma can affect any part of the digestive system, from the esophagus to the rectum. Depending on which parts of the digestive system are affected, signs and symptoms may include:
- Difficulty swallowing
- Fecal incontinence
Heart and lung problems
When scleroderma affects the heart or lungs, it can cause shortness of breath, decreased exercise tolerance and dizziness. Scleroderma can cause scarring in the lung tissues that may result in increasing shortness of breath over time. There are medications that may help slow the progression of this lung damage.
Scleroderma can also cause the blood pressure to increase in the circulation that goes between the heart and the lungs. This is called pulmonary hypertension. In addition to shortness of breath, pulmonary hypertension can also cause excess fluid in the legs, feet and sometimes around the heart.
When scleroderma affects the heart, heartbeats can become irregular. Heart failure may also occur in some people.
Scleroderma results from an overproduction and accumulation of collagen in body tissues. Collagen is a fibrous type of protein that makes up your body's connective tissues, including your skin.
Doctors don't know exactly what causes this process to begin, but the body's immune system appears to play a role. Most likely, scleroderma is caused by a combination of factors, including immune system problems, genetics and environmental triggers.
Anyone can get scleroderma, but it does occur much more often in women than in men. Several combined factors appear to influence the risk of developing scleroderma:
- Genetics. People who have certain gene variations appear to be more likely to develop scleroderma. This may explain why a small number of scleroderma cases appear to run in families and why some types of scleroderma are more common for certain ethnic groups.
- Environmental triggers. Research suggests that, in some people, scleroderma symptoms may be triggered by exposure to certain viruses, medications or drugs. Repeated exposure, such as at work, to certain harmful substances or chemicals also may increase the risk of scleroderma. An environmental trigger is not identified for most people.
- Immune system problems. Scleroderma is believed to be an autoimmune disease. This means that it occurs in part because the body's immune system begins to attack the connective tissues. People who have scleroderma may also have symptoms of another autoimmune disease — such as rheumatoid arthritis, lupus or Sjogren's syndrome.
Scleroderma complications range from mild to severe and can affect the:
- Fingertips. In systemic sclerosis, Raynaud's phenomenon can become so severe that the restricted blood flow permanently damages the tissue at the fingertips, causing pits or skin sores. In some cases, the tissue on the fingertips may die.
- Lungs. Scarring of lung tissue can impact your ability to breathe and tolerance for exercise. You may also develop high blood pressure in the arteries to your lungs.
- Kidneys. A serious kidney complication (scleroderma renal crisis) involves a sudden increase in blood pressure and rapid kidney failure. Prompt treatment of this condition is important to preserve kidney function.
- Heart. Scarring of heart tissue increases your risk of abnormal heartbeats and congestive heart failure. Scleroderma can also cause inflammation of the membranous sac surrounding your heart.
- Teeth. Severe tightening of facial skin can cause your mouth to become smaller and narrower, which may make it hard to brush your teeth or to even have them professionally cleaned. People who have scleroderma often don't produce normal amounts of saliva, so the risk of dental decay increases even more.
- Digestive system. Digestive problems associated with scleroderma can lead to heartburn and difficulty swallowing. It can also cause bouts of cramps, bloating, constipation or diarrhea. Some people who have scleroderma may also have problems absorbing nutrients due to overgrowth of bacteria in the intestine.
- Joints. The skin over joints can become so tight that it restricts joint flexibility and movement, particularly in the hands.