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Key Features

Essentials of Diagnosis

  • A rare chronic disorder characterized by diffuse fibrosis of the skin and internal organs

  • In limited disease (80% of patients): thickening of skin confined to the face, neck, distal extremities

  • In 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 of gastroesophageal reflux, hypomotility of gastrointestinal tract, pulmonary fibrosis, pulmonary hypertension and renal involvement

General Considerations

Limited

  • Also known as the CREST syndrome (representing calcinosis cutis, Raynaud phenomenon, esophageal motility disorder, sclerodactyly, and telangiectasia)

  • The hardening of the skin (scleroderma) is limited to the face and hands

  • Patients with limited disease are more susceptible than those with diffuse disease to

    • Digital ischemia, leading to finger loss

    • Life-threatening pulmonary hypertension

Diffuse

  • Skin changes also involve the trunk and proximal extremities

  • Tendon friction rubs over the forearms and shins

  • Cardiac disease is also more characteristic of diffuse scleroderma

Demographics

  • Symptoms usually appear in the third to fifth decades

  • Women are affected two to three times as frequently as men

Clinical Findings

Symptoms and Signs

  • Skin

    • Most frequently, skin involvement precedes visceral involvement

    • 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

  • Joints

    • Polyarthralgia and Raynaud phenomenon (present in 90% of patients) are early manifestations

  • Gastrointestinal tract

    • Dysphagia from esophageal dysfunction (abnormalities in motility and later from fibrosis) is common

    • Fibrosis and atrophy of the gastrointestinal tract cause hypomotility, and malabsorption results from bacterial overgrowth

    • 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

      • Severe bowel distention with rupture

    • Large-mouthed diverticuli occur in the jejunum, ileum, and colon

  • Pulmonary

    • Diffuse pulmonary fibrosis and pulmonary vascular disease are reflected in low diffusing capacity, restrictive lung physiology and pulmonary hypertension

  • Cardiac abnormalities

    • Pericarditis, heart block, myocardial fibrosis

    • Right heart failure secondary to pulmonary hypertension

  • Renal crisis

    • Results from intimal proliferation of smaller renal arteries and usually associated with systemic hypertension

    • Carries a grave prognosis

Differential Diagnosis

  • Several conditions mimic limited systemic sclerosis (generally limited to the skin and typically in a localized fashion)

    • Eosinophilic fasciitis

    • Overlap syndrome ("mixed connective tissue disease")

    • Raynaud disease

    • Morphea

    • Amyloidosis

    • Graft-versus-host disease

    • Cryoglobulinemia

Diagnosis

Laboratory Tests

  • Antinuclear antibody tests are nearly always positive (Table 20–7)

  • The scleroderma antibody (SCL-70) directed against topoisomerase III is found in one-third of patients with diffuse systemic sclerosis and in 20% of those with CREST syndrome

  • Anticentromere ...

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