Scleroderma
Scleroderma, also called systemic sclerosis, is a diffuse connective tissue disease. It’s characterized by fibrotic, degenerative and, occasionally, inflammatory changes in skin, blood vessels, synovial membranes, skeletal muscles, and internal organs (especially the esophagus, intestinal tract, thyroid, heart, lungs, and kidneys).
Scleroderma occurs in two distinct forms: localized (CREST syndrome) and diffuse. CREST syndrome, the more benign form, accounts for 80% of cases. It causes calcinosis cutis, Raynaud’s phenomenon, esophageal dysfunction, sclerodactyly, and telangiectasia. Diffuse systemic sclerosis, which accounts for 20% of cases, is marked by generalized skin thickening and invasion of internal organ systems.
Eosinophilic fasciculitis, a rare variant of systemic sclerosis, causes skin changes similar to those of diffuse systemic sclerosis but limited to the fascia. Other differences from systemic sclerosis include eosinophilia, an absence of Raynaud’s phenomenon, a good response to prednisone, and an increased risk of aplastic anemia.
Scleroderma is twice as common in females as in males. It usually occurs between ages 30 and 50.
Causes
The cause of scleroderma is unknown.
Complications
In advanced disease, cardiac and pulmonary fibrosis produces arrhythmias and dyspnea. Renal involvement usually causes malignant hypertension, the major cause of death from this disease. Other complications include renal failure, bowel obstruction and perforation, aspiration pneumonia, pulmonary hypertension, heart failure, cor pulmonale, respiratory failure, cardiomyopathy, and death.
Assessment
Ninety percent of patients complain of symptoms of Raynaud’s phenomenon—blanching, cyanosis, and erythema of the fingers and toes in response to stress or exposure to cold. These signs and symptoms may precede diagnosis of scleroderma by months or even years. As the disease progresses, the patient may complain of pain, stiffness, and swelling of fingers and joints.
Eventually, the patient may complain of frequent reflux, heartburn, dysphagia (in 90% of patients), and bloating after meals all stemming from motility abnormalities, GI fibrosis, and malabsorption. These symptoms may cause him to eat less and lose weight. Other common GI complaints include abdominal distention, diarrhea, constipation, and malodorous floating stools.
In the early stages, inspection may reveal thickened, hidelike skin with loss of normal skin folds. You may also note telangiectasia and areas of pigmentation and depigmentation. The patient’s fingers may have shortened because of progressive phalangeal resorption. You may observe slowly healing ulcers on the tips of the fingers or toes—the result of compromised circulation. These ulcers may lead to gangrene.
Later, inspection may disclose taut, shiny skin over the entire hand and forearm from skin thickening. Facial skin may also appear tight and inelastic, causing a wrinkle-free, masklike appearance and a pinched mouth. As tightening progresses, contractures may develop.
With pulmonary involvement, you may observe dyspnea and auscultate decreased breath sounds. With cardiac involvement, you may auscultate an irregular cardiac rhythm, pericardial friction rub, and an atrial gallop. Your assessment may also reveal hypertension if renal involvement occurs.
Diagnostic tests
Typical cutaneous changes provide the first clue to diagnosis. Results of diagnostic tests include:
Blood studies show mild anemia, slightly elevated erythrocyte sedimentation rate, hypergammaglobulinemia, positive rheumatoid factor (in 25% to 35% of patients), positive lupus erythematosus preparation, positive antinuclear antibody (low titer, speckled or nucleolar pattern) and, with diffuse scleroderma, scleroderma antibody (in about 35% of patients).
