Medical Edge from Mayo Clinic

DEAR MAYO CLINIC:

My daughter was diagnosed with scleroderma last year at the age of 48. I know very little about the disease or how it's going to affect her life. Right now, she's in a lot of pain and taking a lot of medication. Thank you for any information you can give.

ANSWER:

Scleroderma is a rare connective tissue disease characterized by hardening, thickening and tightening of the skin and other connective tissues. This progressive disorder affects women more often than men. Scleroderma is categorized into several types, and the disease's effect on your daughter will depend, in part, on the type she has.

Scleroderma is caused by excess collagen in body tissues. Collagen is a fibrous protein that makes up the body's connective tissues, including the skin. Exactly what sets off the abnormal collagen production is unclear, but scleroderma appears to be an autoimmune disorder. That means a person's immune system is inappropriately overactive, causing organ dysfunction. In scleroderma, the result is inflammation and an overproduction of collagen. Patients with scleroderma may experience pain especially in the early phases of the disease, when the skin is undergoing inflammatory changes with excessive collagen being laid down.

Scleroderma can be broken down into two broad categories: localized and systemic.

Localized scleroderma, which affects only certain parts of the skin, has two types. The first is morphea, which most often affects children and is characterized by thickened, discolored patches of skin that are usually pale with purple edges. The second is linear scleroderma, which involves a line of tough skin, typically on the face, skull, arm or leg. Linear scleroderma may also affect the underlying bone and muscles, causing muscle wasting and bone deformities.

Systemic scleroderma affects not only the skin, but also the blood vessels and internal organs, particularly the lungs, heart and kidneys. Various subcategories of systemic scleroderma exist, based on the areas of the body that are involved. Systemic scleroderma can lead to serious complications, including high blood pressure, kidney damage, abnormal heartbeats (arrhythmias), congestive heart failure, reduced lung function and high blood pressure in the arteries going to the lungs (pulmonary hypertension).

At this time, there's no known cure for scleroderma and no medication is available that can stop the production of excess collagen. Although the disease usually gets worse over time, localized scleroderma rarely progresses to become systemic scleroderma. In some cases, the localized form may improve on its own.

Treatment can help control the symptoms.

Drugs that suppress the body's immune response may help, along with medications to improve blood circulation (vasodilators). Also helpful are self-care techniques such as frequently moisturizing the skin, exercising regularly, not smoking and keeping the hands and feet warm. In addition, people with scleroderma should protect the skin around their fingernails and toenails. The decreased blood flow often associated with scleroderma makes it difficult for the skin in those areas to heal well. Cuts and hangnails around the nail beds can lead to severe infections that may require amputation of a finger, fingertip or toe.

Your daughter should check in with her doctor often. I recommend that my patients with scleroderma see me every six months. At those appointments, I review their symptoms, check blood pressure and make any needed changes in treatment. For those with systemic scleroderma, I also recommend tests to monitor the health of their internal organs. That may include blood tests to check kidney function, a chest X-ray to examine the lungs, and an echocardiogram to see if there are any heart problems. Because it's a progressive, chronic disease, frequent monitoring is critical to effectively managing and treating scleroderma over time.

-- Nisha Manek, M.D., Rheumatology, Mayo Clinic, Rochester, Minn.

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