ESSENTIALS OF DIAGNOSIS
Limited disease (80% of patients): skin thickening confined to face, neck, and distal extremities.
Diffuse disease (20%): widespread thickening of skin, including truncal involvement, with areas of increased pigmentation and depigmentation.
Raynaud phenomenon and antinuclear antibodies are present in virtually all patients.
Systemic features: gastroesophageal reflux, gastrointestinal hypomotility, pulmonary fibrosis, pulmonary hypertension, renal involvement.
Scleroderma (systemic sclerosis) is a rare chronic disorder characterized by diffuse fibrosis of the skin and internal organs. The causes of scleroderma are not known, but autoimmunity, endothelial cell damage, and increased production of extracellular matrix appear to play key pathogenic roles. Symptoms usually appear in the third to fifth decades, and women are affected two to three times as frequently as men.
Two forms of scleroderma are generally recognized: limited (80% of patients) and diffuse (20%). In limited scleroderma, which is also known as the CREST syndrome (representing calcinosis cutis (see eFigure 20–14), Raynaud phenomenon (see eFigure 20–15), esophageal motility disorder, sclerodactyly (eFigure 20–16), and telangiectasia), the hardening of the skin (scleroderma) is limited to the face and hands. In contrast, in diffuse scleroderma, the skin changes also involve the trunk and proximal extremities. Tendon friction rubs over the forearms and shins occur uniquely (but not universally) in diffuse scleroderma. In general, patients with limited scleroderma have better outcomes than those with diffuse disease, largely because kidney disease or interstitial lung disease rarely develops in patients with limited disease. Cardiac disease is also more characteristic of diffuse scleroderma. Patients with limited disease, however, are more susceptible to digital ischemia, leading to finger loss (see eFigure 20–14), and to life-threatening pulmonary hypertension. Small and large bowel hypomotility, which may occur in either form of scleroderma, can cause constipation alternating with diarrhea, malabsorption due to bacterial overgrowth, pseudoobstruction, and severe bowel distention with rupture.
Sclerodactyly of the hands in a patient with scleroderma. (Used, with permission, from Nicole Richman, MD.)
Raynaud phenomenon is usually the initial manifestation and can precede other signs and symptoms by years in cases of limited scleroderma. Polyarthralgia, weight loss, and malaise are common early features of diffuse scleroderma but are infrequent in limited scleroderma. Cutaneous disease usually, but not always, develops before visceral involvement and can manifest initially as non-pitting subcutaneous edema associated with pruritus. With time the skin becomes thickened and hidebound, with loss of normal folds. Telangiectasia, pigmentation, and depigmentation are characteristic. Ulceration about the fingertips and subcutaneous calcification are seen. Dysphagia and symptoms of reflux due to esophageal dysfunction are common and result from abnormalities in motility and later from fibrosis. Fibrosis and atrophy of the gastrointestinal tract cause hypomotility. Large-mouthed diverticuli occur in the jejunum, ileum, and colon. Diffuse ...