Frequently Asked Questions
Scleroderma
| Q. What is scleroderma? |
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A. Scleroderma literally means hard skin. It is a multisystemic disorder not simply limited to the skin and may also involve the heart, lungs and kidneys. It is often associated with Raynaud's Phenomenon which is a color change in the extremities often secondary to exposure to cold, trauma or stress. Diffuse cutaneous forms of disease are referred to as systemic sclerosis. Limited cutaneous forms, overlapping syndromes, and localized forms are referred to as linear sclerosis or morphea. The limited cutaneous forms are also referred to as CREST syndrome and have a strong association with certain antibodies, such as the anticentromere antibody and overall has a better prognosis (see next question). |
| Q. What is CREST syndrome? |
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A. CREST syndrome is a limited form of scleroderma and literally CREST stands for Calcinosis, Raynaud's phenomenon, Esophageal dysmotility (often given rise to heartburn symptoms and lower esophagitis), Sclerodactyly which refers to the sclerodermatous changes of the fingers, and Telangiectasias which are dilated venules, capillaries and arterioles involving the hands, face, lips or mouth. It is often associated with an anticentromere antibody and has a relatively good prognosis, but needs to be followed carefully for the development of pulmonary hypertension or pulmonary fibrosis. Patients with CREST syndrome can also have progressive Raynaud's Phenomenon even leading to auto?amputation of the digits. Another feature that is sometimes associated with CREST syndrome is the presence of biliary cirrhosis. |
| Q. What is Raynaud's phenomenon? |
| A. Raynaud's phenomenon refers to the vasospasm that can occur in an episodic and self-limited as well as reversible manner. It affects digits, primarily toes and fingers. Occasionally it can affect the ears, nose and lips. The classic changes in color are from white to blue and then red, but not all patients experience this triad. Raynaud's can affect between 4% to 15% of the general population and is often mild and not associated with any other structural problem or related to any underlying medical disorder. Secondary Raynaud's phenomenon occurs as a manifestation of an underlying disease such as scleroderma, mixed connective tissue disorder, systemic lupus erythematosus, certain malignancies and occasionally acromegaly. It is often treated with short courses of calcium channel blockers such as nifedipine, but in severe cases other vasodilators are used. Proper local care for digital ulcers may occasionally include short courses of antibiotics to treat infections such as staphylococcal bacterial infections. |
| Q. How can I be sure that I have either systemic sclerosis or a limited form of scleroderma? |
| A. Generally this requires the expertise of a rheumatologist and over time the clinical findings of a systemic disorder will generally become more obvious. The presence of an ANA (anti-nuclear antibody) is seen both in diffuse and limited forms, but the presence of an anti-centromere antibody is seen more commonly with the limited cutaneous forms. The presence of this antibody carries a better survival rate of greater than 70% at ten years. Limited or localized forms of scleroderma such as morphea or linear scleroderma lack the systemic features such as renal or lung involvement, or Raynaud's Phenomenon. |
| Q. What is localized scleroderma? |
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A. There are two forms of localized scleroderma. One is morphea which consists of plaques of fibrotic skin involving the subcutaneous tissue. The second form is linear scleroderma, which has longitudinal fibrotic bands primarily involving the extremities but can involve the torso as well. Both of these forms are not associated with systemic features. |
| Q. What causes scleroderma? |
| A. No one knows the exact cause of scleroderma, although at the present time there is growing evidence to suggest a genetic predisposition for this disorder. It can be seen in higher incidences in African-Americans as compared to Nigerian Blacks, and in Oklahoma Choctaw Indians as compared to Missouri Choctaw Indians. Testing for genetic markers are still considered a research tool and would not be helpful for diagnosis. Scleroderma has also been associated with exposure to silica dust and various organic solvents as well as the use of the appetite suppressants L-tryptophan, tainted rapeseed oil, vinyl chloride and bleomycin which is a chemotherapy medication,. Several retrospective studies have not found a link between silicone implants in women and systemic sclerosis. Other investigations have pointed toward a virus as a causative factor and there are several viruses, which are being investigated at this time. |
| Q. What do I do for my heartburn? |
| A. The gastrointestinal tract is diffusely involved in scleroderma affecting not only the esophagus but also the small and large bowel. Heartburn is as a result of acid reflux which can lead to lower esophageal stricture (narrowing). The use of proton pump inhibitors are commonly used. Motility problems can affect the small and large bowel and occasionally a pseudo?obstruction and/or diarrhea can occur from bacterial overgrowth. This needs to be treated with antibiotic therapy in short courses. Rarely a patient may have rectal involvement as a consequence of fibrosis of the rectal splinters. Fecal incontinence may be a difficult problem to manage. |
| Q. How will my skin change over time? |
| A. Most patients with systemic sclerosis will have an early phase of skin involvement characterized by swelling, erythema and tenderness as well as itching of the skin that can affect the upper extremities, and occasionally the feet and ankles as well. This phase can be treated with steroids or PUVA treatment quite successfully to alleviate symptoms. Hardening of the skin comes thereafter. After two years many patients may notice improvement with an increased suppleness of skin that was once hard. Occasionally there are spontaneous remissions in which the skin can revert to its normal state. These are rare in occurrence. The skin involving the chest wall and the back of the thoracic area is also involved with scleroderma. Generally the skin in front of the chest wall will develop similar sclerodermatous changes as seen in the fingers, whereas the changes involving the shoulders and upper back involve pigment or color changes. The color changes may be either darker or lighter skin referred to as either hyperpigmented (darker colored skin) or hypopigmented (lighter colored skin). There is no specific therapy for this other than avoidance of excessive sun exposure. |
| Q. What can I do if I have lung involvement? |
| A. There are generally two forms of lung involvement in scleroderma patients. One is pulmonary interstitial disease which may be mild and not progressive. Occasionally an inflammatory alveolitis can be seen in patients with pulmonary interstitial disease which can be treated more aggressively with steroids and cyclophosphamide. The other kind of involvement is pulmonary arterial hypertension without any significant interstitial fibrosis but which has a worse prognosis. Mortality is high and the aim of therapy is to dilate the pulmonary arteries. The use of intravenous prostacyclin has been studied and is currently used under careful observation. |
| Q. Why do my muscles hurt? |
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A. One common reason for the muscles to hurt is joint and tendon involvement with associated diffuse myalgias or muscle aches. These generally respond well to the use of a nonsteroidal anti-inflammatory medication in short courses. Care must be exercised with use of these medications so as not to aggravate the gastrointestinal tract. Occasionally a patient will develop myositis (inflammation of the muscle), and this may be treated with steroids or methotrexate. Patients with weakness of the muscles without evidence of inflammation may have a fibrotic myopathy which can be treated with physical therapy. |