What is scleroderma?

Scleroderma [skler-uh-DERM-uh] is an autoimmune disease, that is part of a class of diseases in which a person's immune system fights against itself. Scleroderma is relatively rare and it can take years before a diagnosis is confirmed.

Scleroderma means "hard skin" and is characterized by the hardening of connective tissue. Connective tissue binds, supports and keeps our organs in place. It is made of collagen, a very tough protein. With scleroderma, the body makes extra collagen as if there was a connective tissue injury in need of repair. The excess collagen prevents a body's organs from working properly and can lead to symptoms ranging from cold sensitivity to profound fatigue, difficulty swallowing and digesting food, and difficulty breathing.

Each case of scleroderma is unique, with patients cycling between periods of remission and symptoms that can become life-threatening. The cause is unknown and there is no cure, however, several new treatment options are available that can improve quality of life as well as life expectancy.

Scleroderma occurs four times as frequently in women than in men and is most common between the ages of 30 to 55 years old. Scleroderma is more common in African Americans than in caucasians, and African Americans tend to have more severe complications.

What causes scleroderma?

Researchers are not yet sure of the exact causes of scleroderma. Genetic susceptibility is likely but further study is needed.

What are the symptoms of scleroderma?

Scleroderma symptoms vary, depending on which organ systems are involved:

  • Digestive organs: Problems swallowing and digesting food resulting from thickening and hardening of the esophagus and digestive tract.
  • Major organs: Heart failure and abnormal heart rhythms, kidney disease and scarring on the lungs (causing shortness of breath and problems breathing). Any of these symptoms if left untreated can become life-threatening.
  • Skin: Nearly everyone diagnosed with scleroderma will develop a tight, shiny, dark patch of large areas of skin, most commonly on the face. These patches can also appear elsewhere on the body; sometimes multiple patches appear.

Other symptoms include:

  • Raynaud's Disease: This is characterized by swelling, tingling, numbness, blue and white colors, and pain in fingers and toes brought on by cold or emotional distress. Most people with Raynaud's do not have scleroderma; however, it is one of the first symptoms of scleroderma.
  • Inflammation in joints which results in pain, stiffness, swelling and a grating noise when inflamed tissues move.
  • Sores on fingertips and knuckles
  • Calcium bumps that occur on fingers or other bony areas.

Types of scleroderma

There are two main types of scleroderma: localized and systemic.

Localized scleroderma

Localized scleroderma tends to involve only a few places on the skin or muscles and does not affect internal organs.

Systemic scleroderma

Patients with systemic scleroderma, also called systemic sclerosis (SSc), typically have involvement of their blood vessels and internal organs.Systemic scleroderma can be further broken down into three main subtypes:

  • Limited scleroderma: Patients with limited scleroderma may develop thickening of the skin on their face, forearms, and lower legs, but the skin on their chest, abdomen, upper arms, and thighs is spared.
  • Diffuse scleroderma: Patients with diffuse scleroderma can develop thickening of the skin anywhere on the body, including in the areas that are spared in those with limited scleroderma.
  • SSc sine scleroderma: Patients with SSc sine scleroderma have blood vessel and internal organ involvement without skin thickening.

Systemic sclerosis can cause a variety of symptoms and complications, including:

  • Raynaud’s phenomenon: color changes in the fingers or toes in response to cold temperatures or stress. The type of Raynaud's that occurs with scleroderma can be so severe that the restricted blood flow permanently damages the tissue at the fingertips, causing pits or skin sores (ulcers). In some cases, gangrene and amputation may follow.
  • Skin thickening/tightening, which can also be associated with severe itchiness
  • Difficulty breathing, which can be due to scarring of lung tissue (pulmonary fibrosis) or to high pressure in the artery that connects the heart to the lungs (pulmonary hypertension). Both pulmonary fibrosis and pulmonary hypertension can result in reduced lung function, impacting the ability to breathe and tolerate exercise.
  • Heart burn or difficulty swallowing
  • Joint pain, swelling, and/or stiffness
  • Difficulty opening the mouth: 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 do not produce normal amounts of saliva, so the risk of dental decay increases.
  • Red spots on the skin or in the mouth due to small, enlarged blood vessels called telangiectasias
  • White bumps under the skin called calcinosis
  • Kidney failure
  • Sexual dysfunction: Men who have scleroderma often experience erectile dysfunction. Scleroderma may also affect the sexual function of women by decreasing lubrication and constricting the vaginal opening.

How is scleroderma diagnosed?

Your evaluation will include a comprehensive medical history review as well as a thorough physical examination to assess the extent of the disease. Proper diagnosis and understanding of which organs are involved is essential to finding the most appropriate treatment. Doctors will conduct tests based on the symptoms you're experiencing. Your rheumatologist will likely recommend blood tests to look for certain types of autoantibodies. If you have patches of tightened skin, your doctor may take a sample of the tissue, called a biopsy, to examine it. If you are experiencing breathing problems, your rheumatologist may recommend pulmonary function tests, a CT scan of your lungs, and an echocardiogram of your heart.

How is scleroderma treated?

Scleroderma is a rare disease with no cure at this time. However, your symptoms can be managed with a variety of medications and therapies. Treatments may, for example, be directed at lowering blood pressure, relieving heartburn, or suppressing the immune system. Your physician may also write a prescription so that you can have physical or occupational therapy to help you improve your strength and mobility, thereby managing pain and helping you maintain your independence. In cases where symptoms are very mild, there may be no need for medication.