Systemic Sclerosis

Aka: Systemic Sclerosis, Scleroderma, Systemic Scleroderma

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II. Epidemiology

  1. Incidence: 10-20 cases per 1 million persons annually
  2. Prevalence: Up to 250 cases per 1 million persons

III. Pathophysiology

  1. Idiopathic Collagen Disease
  2. Progressive Muscle atrophy and fibrosis
  3. Esophagus changes
    1. Loss of peristalsis
    2. Sphincter reduction

IV. Types

  1. Limited cutaneous Systemic Sclerosis (60% of cases)
    1. Typical skin involvement is distal to elbows and knees
    2. Associated with Pulmonary Hypertension
    3. Associated with CREST Syndrome
      1. Severe Gastroesophageal Reflux is common
      2. Raynaud's Phenomenon are common
    4. Other associated findings
      1. Telangiectasia
      2. Calcinosis cutis
      3. Sclerodactyly
      4. Digital ischemia
  2. Diffuse cutaneous Systemic Sclerosis (35% of cases)
    1. Skin involvement may be proximal to elbows and knees and may affect face
    2. Associated with Interstitial Lung Disease (pulmonary fibrosis)
    3. May present with renal disease
    4. Skin pigment may be altered
    5. Tendons friction rubs may be present
  3. Systemic Sclerosis sine Scleroderma (5% of cases)
    1. Internal organ manifestations only

V. Symptoms

  1. Gradual symptom onset
  2. Anorexia
  3. Dyspnea
  4. Dysphagia
  5. Reduced sweating
  6. Arthralgias

VI. Signs (see specific types above)

  1. Key features
    1. Scleroderma
      1. Skin hardening
      2. Skin contracted with immobility and symmetric deformity (tight skin)
    2. Raynaud's Phenomenon
  2. Other findings
    1. Low grade fever
    2. Muscular weakness
    3. Limited chest expansion
    4. Limited jaw opening
    5. Digital pitting or ulceration

VII. Labs

  1. Screening
    1. Antinuclear Antibody
      1. Present in 95% of Systemic Sclerosis (all subtypes)
  2. Confirmation
    1. ANA Nucleolar Pattern
    2. Anti-centromere Antibody
      1. Most associated with limited cutaneous subtype (60-80% of cases)
    3. Antitopoisomerase-1 Antibody (Anti-Scl-70)
      1. Associated with diffuse cutaneous subtype (esp. more severe cases)
      2. Associated with worse prognosis (increased mortality, higher risk of Interstitial Lung Disease)
      3. Test Sensitivity: 43%
      4. Test Specificity: 100%

VIII. Differential Diagnosis

  1. Amyloidosis
  2. Eosinophilia-Myalgia Syndrome
  3. Nephrogenic Fibrosing Dermopathy
  4. Scleromyxedema
  5. Toxic oil syndrome

IX. Complications

  1. Esophageal Dysmotility
    1. Substantial Gastroesophageal Reflux Disease
    2. Barrett's Esophagus
  2. Pulmonary fibrosis
  3. Pulmonary Hypertension
  4. Scleroderma renal crisis
  5. Digital infarction

X. Management

  1. See Raynaud Phenomenon
  2. See Pulmonary Fibrosis
  3. See Pulmonary Hypertension
  4. Skin Fibrosis
    1. Chemotherapy agents
  5. Esophageal Dysmotility
    1. Chew food well and drink adequate liquids with food
    2. Gastric acid reduction
      1. H2 Blocker (e.g. Ranitidine)
      2. Proton Pump Inhibitor (e.g. Prilosec)

XI. Resources

  1. Scleroderma Foundation
    1. http://www.scleroderma.org

XII. References

  1. Hawk (2001) Semin Cutan Med Surg 20(1):27-37 [PubMed]
  2. Hinchcliff (2008) Am Fam Physician 78:961-8 [PubMed]
  3. Mitchell (1997) Med Clin North Am 81(1):129-49 [PubMed]
  4. Steen (2006) Autoimmun Rev 5(2):122-4 [PubMed]

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