What Is It?

Scleroderma is a poorly understood illness that causes widespread hardening of the skin, especially on the hands and face. It also can damage the lungs, heart, kidneys, digestive tract, muscles and joints. It is a long-lasting (chronic) autoimmune disorder, an illness in which the body’s immune defenses mistakenly attack the body’s own cells rather than protecting them from outside invaders. Scleroderma also is called progressive systemic sclerosis.

There are two types of scleroderma based on which part of the body is affected most. In the limited form, also called limited systemic sclerosis, the skin is the primary target. In the diffuse form (diffuse systemic sclerosis), the damage not only affects the skin, but also can affect the lungs, kidneys and other internal organs.

In people with scleroderma, scientists have identified abnormal immune proteins called autoantibodies, which are programmed to attack specific components of body cells. They also have found abnormal accumulations of protective T-cells (white blood cells that are part of the immune system) in the skin and elsewhere. Although scientists don’t understand exactly what happens, experts believe that the immune system, perhaps involving these autoantibodies or T-cells, somehow damages the body’s smallest arteries, called arterioles. These damaged arterioles leak fluid, which causes swelling. They also release chemical factors that stimulate cells called fibroblasts to produce too much collagen, a fibrous protein. In the skin, this leads to thickening, hardening and tightness. Elsewhere in the body, the autoimmune attack of scleroderma can damage the digestive tract, the linings of joints, the outside sheaths of tendons, muscles (including the heart muscle), portions of the heart that regulate heart rhythm, the small blood vessels and the kidney.

Scleroderma affects about 14 in every 1 million people worldwide, and is most common in women aged 35 to 54. Because scleroderma is more common in women during the childbearing years, researchers have looked for a pregnancy-related factor to explain why scleroderma develops. One theory suggests that leftover fetal cells can still be circulating in the mother’s bloodstream decades after pregnancy, and may play some role in triggering the autoimmune changes behind scleroderma.

Older studies have linked scleroderma to exposure to certain chemicals, specifically vinyl chloride, epoxy resins and aromatic hydrocarbons. Some people who took tryptophan, an amino acid that used to be sold as a dietary supplement, developed a condition similar to scleroderma, called eosinophilia myalgia syndrome. Since tryptophan was removed from the market, no further cases of eosinophilia myalgia syndrome have been reported, but the clear link between tryptophan and eosinophilia myalgia syndrome raises the possibility that exposure to something in the environment could trigger scleroderma.

The symptoms of scleroderma vary from person to person and can include:

• Raynaud’s phenomenon — In people with this condition, blood vessels in the fingers or toes, and sometimes in the tip of the nose and ears, suddenly constrict and become narrower. The area turns white or blue and becomes cold and numb. This is followed by a flush of redness as the area warms up again, often together with pain or tingling. Raynaud’s phenomenon can be triggered by exposure to cold or vibration or by emotional stress.



• Skin symptoms — There can be swelling of the fingers, hands, forearms and face and, sometimes, the feet and lower legs. This is followed by a skin thickening and tightness that can limit body movement. There also can be:
  
  
  • Skin ulcers
  • Skin that is lighter or darker than usual
  • Loss of hair
  • Abnormal skin dryness, including vaginal dryness
  • Calcium deposits in the skin (subcutaneous calcinosis)
  • Small red spots caused by localized swelling of tiny blood vessels (telangiectasias)


• Joints — Joints can swell, and become painful and stiff.



• Muscles — Muscles can become weak, and tendons can become abnormally thick, causing pain and limited joint motion.



• Digestive system — When scleroderma involves the esophagus, it can cause a feeling of fullness or burning pain (heartburn) in the upper abdomen or behind the breastbone, together with difficulty swallowing or keeping food down. Other digestive symptoms include bloating, lower abdominal pain or difficulty controlling bowel movements.



• Lungs — Symptoms can include shortness of breath, especially when you exercise, and a dry cough that doesn’t bring up sputum or mucus.



• Heart — Problems can include chest pain, abnormal heart rhythms and heart failure.



• Kidneys — Kidney damage can lead to high blood pressure, headache, seizures, abnormal proteins in the urine, and too little urine being made.



• Other symptoms — Other symptoms can include dry eyes and mouth, sudden episodes of severe facial pain (trigeminal neuralgia) and impotence.

More than 95 percent of people with scleroderma have both Raynaud’s phenomenon and skin thickening (also called sclerodactyly when the fingers are involved). In addition, those with limited scleroderma tend to have telangiectasias (85 percent of patients), digestive problems involving the esophagus (80 percent) and calcinosis (50 percent), often called CREST syndrome (calcinosis, Raynaud’s, esophageal disease, sclerodactyly and telangiectasia).

Besides having Raynaud’s phenomenon and skin thickening, people with the diffuse form of scleroderma can have digestive symptoms involving the esophagus (80 percent), joint symptoms (70 percent), muscle weakness (50 percent), lung symptoms (40 percent) and heart failure (30 percent).

Your doctor will ask about your symptoms and will examine your skin, especially on your fingers, hands and face. If your doctor suspects you have scleroderma, he or she may want to do a skin biopsy and blood tests. In a biopsy, a small sample of skin will be removed and examined in a laboratory. If scleroderma affects internal organs such as the heart, lungs or digestive organs, a chest X-ray and other tests may be necessary.

Scleroderma is a chronic (long-lasting) disease. Although symptoms may come and go over time, the various forms of this disease usually last a lifetime. The skin swelling that happens first can last for a few weeks or months. This is followed by a gradual thickening of the skin and other skin changes. In the diffuse form of the disease, skin symptoms tend to peak within three years, then stabilize or even improve. If skin changes occur more rapidly, there is often a greater risk that internal organs are being damaged as well. In limited scleroderma, skin symptoms tend to worsen very slowly over a period of many years.

There is no way to prevent scleroderma.

There is currently no treatment for scleroderma that is always effective. Doctors may treat scleroderma with one or more of the following medications:

• D-penicillamine (Cuprimine) decreases the activity of the immune system, and is thought to interfere with collagen production. Studies show that D-penicillamine may reduce skin thickening and prevent organ damage in some patients, but its overall success rate is not high. It also can cause serious side effects that harm the kidneys and blood cells. It is being used less than in the past to treat scleroderma.



• Cyclophosphamide (Cytoxan, Neosar) also decreases the activity of the immune system, and has been shown to improve lung function when used along with corticosteroids in people with inflammation in the lungs. The risks associated with this powerful medication, including infection, bleeding from the bladder and an increased risk of cancer require that its use be highly selective and closely monitored.



• Glucocorticoids can be used to relieve inflammation of the membrane surrounding the heart (pericarditis), arthritis and inflammation of the muscles (myositis). However, these drugs also can have serious side effects, including the possibility that they may increase blood pressure and worsen kidney function in people with scleroderma.



• Diuretics encourage the body to release excess fluid as urine. They are used to relieve swelling of the hands and feet.



• Omeprazole (Prilosec) or related medications may be quite effective for the heartburn related to esophageal disease.



• Bosentan (Tracleer) or epoprostenol (Flolan) may be effective for a potentially serious condition called pulmonary hypertension in which the blood pressure in the lung’s blood vessels is elevated. These drugs also may improve symptoms of Raynaud’s phenomenon.

Many patients find relief from Raynaud’s phenomenon by limiting their exposure to cold and by wearing warm clothing, especially mittens and socks. Others find that regular exercise, physical therapy, skin massage and moisturizing ointments help skin symptoms. If dry skin becomes ulcerated and infected, antibiotics may be needed. For more severe cases, medications may be necessary. These include calcium channel blockers such as nifedipine (Procardia, Adalat) or diltiazem (Cardizem), ACE-inhibitors such as captopril (Capoten) or enalapril (Vasotec), reserpine (Serpasil), alpha-methyldopa (Aldomet) or prazosin (Minipress). Several of these medications have side effects that limit how long they can be used.

As an alternative to medication, some patients choose biofeedback, or injections called nerve blocks. These injections are given under local anesthesia near the neck, armpit or hand and usually are done only after other approaches have not worked. The injections temporarily or permanently interrupt nerve signals to blood vessels. By removing the nerve signals that tell an artery to constrict, arteries can dilate and improve blood flow.

Patients also are urged not to smoke, and to avoid prescription and street drugs, including beta-blockers, amphetamines, cocaine and ergotamine (Gynergen and other brand names).

Call your doctor if you think that you are experiencing episodes of Raynaud’s phenomenon or other symptoms of scleroderma, especially if you are a woman of childbearing age.

About 85 percent to 90 percent of people with limited scleroderma have a good outlook. The remaining 10 percent to 15 percent may develop potentially fatal lung damage over a period of 10 to 20 years. Patients with diffuse scleroderma tend to have a poorer outlook, although at least 55 percent survive for 10 years or more. Longevity in this illness may be improving over time but its rarity and variability make it difficult to accurately predict the prognosis in an individual with scleroderma.

Diseases and Conditions Center

All ArmMed Media material is provided for information only and is neither advice nor a substitute for proper medical care. Consult a qualified healthcare professional who understands your particular history for individual concerns.