Also called scleroderma, 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).
Systemic sclerosis occurs in two distinct forms: localized (CREST syndrome) and diffuse. CREST syndrome, the more benign form, accounts for 80% of cases. It causes akinesis 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 the 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.
Systemic sclerosis is twice as common in women as in men. It usually occurs between ages 30 and 50.
The cause of systemic sclerosis is unknown.
- blanching , blueness, or redness of fingers and toes in response to heat and cold ( Raynaud's phenomenon )
- pain, stiffness, and swelling of fingers and joints
- skin thickening and shiny hands and forearm
- skin is hard
- weight loss
- shortness of breath
Typical cutaneous changes provide the first clue to diagnosis. Results of diagnostic tests include the following:
- 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 systemic sclerosis, scleroderma antibody (in about 35% of patients).
- Urinalysis reveals proteinuria, microscopic hematuria, and casts (with renal involvement).
- Hand X-rays show terminal phalangeal tuft resorption, subcutaneous calcification, and joint space narrowing and erosion.
- Chest X-rays demonstrate bilateral basilar pulmonary fibrosis.
- GI X-rays disclose distal esophageal hypomotility and stricture, duodenal loop dilation, small-bowel malabsorption pattern, and large diverticula.
- Pulmonary function studies reveal decreased diffusion, vital capacity, and lung compliance.
- Electrocardiography detects possible nonspecific abnormalities related to myocardial fibrosis.
- Skin biopsy shows possible changes consistent with the progress of the disease, such as marked thickening of the dermis and occlusive vessel changes.
- Muscle biopsy reveals increased collagen deposition and accumulation of lymphocytes and plasma cells.
No cure exists for systemic sclerosis. The goal of treatment is to preserve normal body functions and minimize complications. Immunosuppressants, such as chlorambucil, can help relieve symptoms. Used experimentally, corticosteroids and colchicine seem to stabilize symptoms; D-penicillamine may also be helpful. The patient should have her platelet levels monitored throughout immunosuppressant therapy. Experimental treatments include methotrexate, interferon-alpha, interferon-gamma, and FK 506.
Other treatment varies according to symptoms:
- Raynaud's phenomenon. Treatment consists of various vasodilators, calcium channel blockers, and antihypertensive agents (such as methyldopa), along with intermittent cervical sympathetic blockade or, rarely, thoracic sympathectomy.
- Chronic digital ulcerations. A digital plaster cast immobilizes the affected area, minimizes trauma, and maintains cleanliness. The patient may also need surgical debridement.
- Esophagitis with stricture. The patient receives antacids, a histamine2 antagonist (such as omeprazole, cimetidine, or ranitidine), a soft bland diet, and periodic esophageal dilatation.
- Small-bowel involvement. The patient receives broadspectrum antibiotics, such as erythromycin and tetracycline, to counteract bacterial overgrowth in the duodenum and jejunum related to hypomotility.
- Scleroderma kidney (with malignant hypertension and impending renalfailure). The patient requires dialysis, antihypertensives, and calcium channel blockers; if hypertensive crisis develops, she may receive an angiotensin-converting enzyme inhibitor.
- Hand debilitation. Treatment consists of physical therapy to maintain function, prevent contractures, and promote muscle strength; heat therapy to relieve joint stiffness; and patient teaching to help the patient perform activities of daily living.
- Pulmonary manifestations. The patient receives oral or parenteral cyclophosphamide to relieve dyspnea, crackles, and symptoms of constrictive pulmonary function.