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  • The most frequent symptoms are (in descending order) Raynaud phenomenon, gastroesophageal reflux with or without dysmotility, skin changes, swollen fingers, and arthralgias.
  • Patients with Raynaud phenomenon and features atypical for primary Raynaud phenomenon should be evaluated for the possibility of scleroderma or another connective tissue disease.
  • A negative antinuclear antibody test (by indirect immunofluorescence) makes the diagnosis of scleroderma very unlikely.
  • The degree of skin involvement is highly variable. Many patients with limited scleroderma have only subtle cutaneous findings (eg, mild sclerodactyly).
  • The current classification criteria do not include many patients with milder forms of scleroderma.
  • Some patients may have overlapping clinical features with other systemic autoimmune rheumatic disorders such as polymyositis/dermatomyositis, Sjögren syndrome, systemic lupus erythematosus, and rheumatoid arthritis.

Systemic sclerosis (scleroderma) is a chronic multisystem disease that belongs to the family of systemic autoimmune disorders. The word scleroderma literally means “hard skin” and describes the most dramatic clinical feature of the disease—namely, skin fibrosis. Scleroderma effects approximately 20 new patients per million per year and has an estimated prevalence of approximately 250 patients per million in the United States. As with many other autoimmune disorders, scleroderma is approximately 4–5 times more common in women than men. The average age at the time of diagnosis is approximately 50 years.

The prevalence and manifestations of scleroderma vary among racial and ethnic groups. For example, the disease is approximately 100 times more common among the Choctaw Native Americans in Oklahoma, in whom the disease is characterized by diffuse skin disease and pulmonary fibrosis. Milder, “limited” disease is more common among older white women, and African American patients are more likely to be younger and have severe lung disease. The finding of various subtypes of scleroderma among different ethnic or racial groups, the presence of familial clustering, and the appearance of specific autoantibodies that are associated with specific HLA types define genetic influences on disease expression. New genetic studies examining both candidate gene approaches and genome-wide association studies confirm genetic influence in disease susceptibility. Certain environmental factors are also thought to play etiologic roles. For example, characteristic antibodies and scleroderma disease manifestations can develop in workers exposed to high levels of silica dust (ie, coal miners, stone masons).

Scleroderma is a rare disorder but is characterized by symptoms that occur frequently in the general population, such as Raynaud phenomenon, gastroesophageal reflux, fatigue, and musculoskeletal pain. Therefore, it is important for primary care practitioners to be aware of scleroderma because early recognition can reduce morbidity and detect treatable, life-threatening complications.

The American College of Rheumatology classification criteria for scleroderma include either thickened (sclerodermatous) skin changes proximal to the metacarpophalangeal joints or at least two of the following:

  1. Sclerodactyly.

  2. Digital pitting (loss of tissue on the finger pads due to ischemia).

  3. Bibasilar pulmonary fibrosis.

A diagnosis of scleroderma may also be made if the patient has three or more features of the CREST ...

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