Spotlight on scleroderma

Scleroderma is an autoimmune rheumatic disease in which skin of the extremities, chest, abdomen, and/or face becomes thick and hard. Joint pain and stiffness, particularly involving the hand joints, is almost always present at disease onset.

Scleroderma occurs when the body's immune system begins to malfunction and attacks healthy tissue in various parts of the body, causing inflammation and damage. The most common tissue affected by scleroderma is the skin. When the immune system attacks the skin in scleroderma, the body responds by producing too much collagen, resulting in a thickening and hardening of the skin-the word scleroderma literally means "hard skin". In some forms of scleroderma, internal organs are also affected.

Scleroderma affects about 15,000 Canadians—approximately one in 2000. Like many other forms of arthritis, scleroderma occurs more commonly in women than in men-women develop scleroderma approximately four times more frequently than men do. Scleroderma affects people of all ages, from babies to the elderly, but it tends to occur most often between the ages of 45 and 65.

While the exact cause or causes of scleroderma remain unknown, some research indicates that people with a family history of scleroderma or other rheumatic autoimmune diseases, like rheumatoid arthritis, may be at a higher risk for developing scleroderma. As well, some researchers believe that frequent exposure to solvents and heavy metals—for example, people who work in manufacturing or refining plants—may increase the risk of developing scleroderma.

There are two main types of scleroderma. These are:
  • Systemic scleroderma, including:
    • Diffuse scleroderma—the most serious form of the disease, characterized by rapid progression of skin thickening to include the upper arms, thighs, chest, and/or abdomen. In this form of the disease, there is often significant internal organ involvement, particularly of the lungs, intestine, heart, and kidneys.
    • Limited scleroderma—skin thickening restricted to the fingers, hands, and forearms, which does not progress beyond these areas. This disease sub-type was previously known as the CREST syndrome, but physicians now recognize that this term does not accurately separate diffuse from limited scleroderma.
    • Scleroderma sine scleroderma—a form of systemic scleroderma in which skin thickening is absent but other features (internal organ involvement, blood antibodies) are characteristic of scleroderma.
  • Localized scleroderma—the milder form of scleroderma, in which internal organs are not affected. Generally, disease involvement is limited to the skin. The two main types of localized scleroderma are:
    • Morphea—characterized by round or oval patches of rough, hardened skin most often appearing on the chest and abdomen, though arms, legs, and face may also be involved.
    • Linear—characterized by a line or streak of thickened skin most often appearing on the torso, arms, or legs, though sometimes linear scleroderma can appear on the face or neck, particularly in children. Skin thickening penetrates through the skin underlying fat, rarely affecting the bone. Children and teenagers who develop scleroderma more often have the linear type of the disease.

It is important to note that not all people with a particular type of the disease will necessarily develop all of the problems associated with that type.

Diagnosis of scleroderma
If your doctor believes you could have scleroderma, you will usually be referred to a rheumatologist—a specialist in the treatment of scleroderma and other diseases which affect joints. Rheumatologists have additional training and experience in the diagnosis and treatment of scleroderma and related conditions.

The diagnosis of scleroderma is based on a combination of medical history, physical examination, and laboratory test results. Blood antibodies characteristic of scleroderma are important. Additional diagnostic tests should be performed to determine if there is involvement of the intestine, lungs, heart, or kidneys.

Treatment of scleroderma
Once your rheumatologist has confirmed the diagnosis of scleroderma, there are treatments available which vary depending on the form of the disease. There is no known cure for scleroderma, and treatments therefore focus on controlling symptoms.

Medications for scleroderma depend on the type of disease, severity of symptoms, and degree of internal organ involvement. There are three major groups of medications which are used to treat scleroderma. These are:
  • Non-steroidal anti-inflammatory drugs (NSAIDs), such as ibuprofen (for example Advil® or Motrin IB®), naproxen (or Naprosyn®), dicloflenac (or Voltaren® and Arthrotec®)
  • Corticosteroids, such as prednisone
  • Potential disease-modifying anti-rheumatic drugs (DMARDs), such as D-penicillamine, mycophenolate mofetil (CellCept®), and methotrexate.

Other medications may be used to treat the complications of scleroderma, such as high blood pressure, heartburn, and bowel problems. The goal with these medications is to bring symptoms under control and slow the progression of the disease, as well as to prevent or minimize damage to internal organs.

In patients with scleroderma, particularly limited scleroderma, regular monitoring should be done for pulmonary hypertension (high blood pressure in the lungs). This cannot be tested with a blood pressure cuff. An ultrasound of the heart (echocardiogram) should be done every 6 to 12 months in most patients with limited scleroderma to look for early signs of this treatable complication.

Non-medication treatments are a very important component of a well-rounded treatment plan for scleroderma. There are many simple steps that can be taken at home to manage scleroderma symptoms. It is important to keep skin well-moisturized and joints protected. Recommendations for people with scleroderma include:
  • Using a humidifier at home to keep skin from becoming dry
  • Keeping skin moisturized with lotions
  • Avoiding skin creams containing strong perfumes
  • Moisturizing eyes with eyedrops
  • Not smoking
  • Getting sufficient exercise, including range-of-motion exercises
  • Avoiding foods that cause heartburn/acid reflux, and avoiding meals late in the evening

And finally, maintaining a healthy lifestyle is also a critical part of any scleroderma treatment plan. Poor diet and high levels of stress may worsen the disease, so healthy eating and relaxation are highly recommended.

ACE thanks Dr. Thomas A. Medsger Jr. of the University of Pittsburgh for his scientific review of this article. Dr. Medsger is a world-recognized scleroderma researcher.