The name scleroderma means "hard skin"—a simple description of a complex disease that causes thick, hard scar tissue to form either on the outer skin or inside the body around major organs.
In serious cases, this scarring can cause serious damage to the lungs, kidneys, digestive tract, and heart. A variety of medications can help control symptoms and slow further damage, but so far there is no cure. Recent NIH-funded research suggests that stem cell transplants may provide hope for some cases.
What causes scleroderma?
Scleroderma is considered an autoimmune disorder, which means the body is being attacked by its own immune system. In this case, the process of forming scar tissue—the immune system's natural response to help heal and protect damaged skin—has gone wrong.
The body overproduces collagen, which causes thick, tight patches of skin that stiffen, squeeze, and ultimately damage portions of the body. What causes this malfunction is unclear, but researchers have identified some genetic variations that may increase a person's risk.
There are two general types of the disease
- Localized scleroderma (also known as morphea), which usually affects only the skin and can sometimes go away on its own.
- Systemic scleroderma, which usually affects small or large areas of skin. It can also affect internal organs, which can be deadly.
Who gets it?
An estimated 300,000 Americans have scleroderma (about 100,000 with systemic scleroderma and 200,000 with the localized form). Anyone can get it, but you can't catch it from other people. It's most common in adults and especially in women. The localized type is more likely to develop before the age of 40, while the systemic type is more common in adults ages 30 to 50 and in African-Americans.
What are the symptoms?
Among the most common symptoms are:
- Patches of hard or thickened skin that appear shiny.
- Fingers or toes that turn blue or white or become numb in cold weather, called Raynaud's syndrome, which is caused by a narrowing of blood vessels.
- Painful bumps under the skin from calcium deposits.
- Red spots on the face or hands from the swelling of tiny blood vessels.
- Digestive problems, including heartburn, acid reflux, and trouble swallowing, from swelling of the esophagus.
How is it diagnosed?
There is no single test to diagnose scleroderma, but there are blood tests to detect certain proteins (called antibodies) produced by the immune system, as well as a physical exam, skin biopsy, and lung, heart, and gastrointestinal tests.
How is it treated?
There are some drugs patients can take to relieve symptoms and reduce damage.
Immunosuppressants, such as mycophenolic acid, have become a major category of medications used against the overactive immune system. Repurposing or combining drugs used for cancer and other diseases have also led to promising results. Patients are encouraged to make changes to their diet, learn stretching to help their joints, and use creams to help with red patches of skin.
