Rheumatology Book

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Systemic SclerosisAka: Scleroderma, Systemic Scleroderma

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  1. Epidemiology
    1. Incidence: 10-20 cases per 1 million persons annually
    2. Prevalence: Up to 250 cases per 1 million persons
  2. Pathophysiology
    1. Idiopathic collagen disease
    2. Progressive muscle atrophy and fibrosis
    3. Esophagus changes
      1. Loss of peristalsis
      2. Sphincter reduction
  3. 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
      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
  4. Symptoms
    1. Gradual symptom onset
    2. Anorexia
    3. Dyspnea
    4. Dysphagia
    5. Reduced sweating
    6. Arthralgias
  5. Signs (see specific types above)
    1. Key features
      1. Scleroderma
        1. Skin hardening
        2. Skin contracted with immobility and symmetric deformity
      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
  6. Labs
    1. Antinuclear Antibody (especially nucleolar pattern)
      1. Present in 95% of systemic sclerosis (all subtypes)
    2. Anticentromere 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)
  7. Differential Diagnosis
    1. Amyloidosis
    2. Eosinophilia-Myalgia Syndrome
    3. Nephrogenic fibrosing dermopathy
    4. Scleromyxedema
    5. Toxic oil syndrome
  8. 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
  9. 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)
  10. Resources
    1. Scleroderma Foundation
      1. http://www.scleroderma.org
  11. References
    1. Hawk (2001) Semin Cutan Med Surg 20(1):27
    2. Hinchcliff (2008) Am Fam Physician 78:961
    3. Mitchell (1997) Med Clin North Am 81(1):129
    4. Steen (2006) Autoimmun Rev 5(2):122

Systemic Scleroderma (C0036421)

Definition (MSH)A chronic multi-system disorder of CONNECTIVE TISSUE. It is characterized by SCLEROSIS in the SKIN, the LUNGS, the HEART, the GASTROINTESTINAL TRACT, the KIDNEYS, and the MUSCULOSKELETAL SYSTEM. Other important features include diseased small BLOOD VESSELS and AUTOANTIBODIES. The disorder is named for its most prominent feature (hard skin), and classified into subsets by the extent of skin thickening: LIMITED SCLERODERMA and DIFFUSE SCLERODERMA.
Definition (CSP)systemic disorder of the connective tissue; manifested by hardening and thickening of the skin, by abnormalities involving the microvasculature and larger vessels, and by fibrotic degenerative changes in various body organs including the heart, lungs, kidneys, and gastrointestinal tract.
ConceptsDisease or Syndrome (T047)
ICD9710.1, 710.1
MSHD012595
EnglishProgressive systemic sclerosis, PSS, PSS - Progressive systemic sclerosis, Scleroderma, Scleroderma syndrome, SS - Systemic sclerosis, Systemic Scleroderma, Systemic sclerosis
Spanishesclerodermia, esclerosis sistemica, esclerosis sistemica progresiva, sindrome de esclerodermia
Parent ConceptsSystemic disease (C0442893), Scleroderma (C0011644), Diffuse disease of connective tissue (C0041785), Connective Tissue Diseases (C0009782), skin disorder (C0037274), Disorder of fascia (C0263977), Reason not stated concept (C1276325), Ambiguous concept (C1274012)
SourcesAIR, COSTAR, CSP, DXP, ICD9CM, LCH, MEDLINEPLUS, MSH, MTH, MTHICD9, NDFRT, QMR, SCTSPA, SNOMEDCT
Derived from the NIH UMLS (Unified Medical Language System)



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