scleroderma
SCLERODERMA
Scleroderma is a connective tissue disorder characterized by skin thickening and fibrosis. It is rare, autoimmune and chronic.
It has an idiopathic cause and not contagious.
Early microvascular damage, mononuclear cell infiltrates and slowly developing fibrosis are the important features of the tissue lesions.
The leading causes of death are pulmonary fibrosis and pulmonary arterial hypertension.

Diagnosis

  • Diagnosis is based on medical history, clinical presentation & laboratory tests

2013 ACR/EULAR Classification Criteria for Systemic Scleroderma/Sclerosis

  • Presence of skin thickening of the fingers extending proximal to the metacarpophalangeal joints
  • If skin thickening is absent, assess for any of the following:
    • General skin thickening of the fingers
    • Fingertip lesions
    • Systemic sclerosis-related autoantibodies
    • Interstitial lung disease or pulmonary arterial hypertension
    • Raynaud’s phenomenon
    • Telangiectasia
    • Abnormal nailfold capillaries

Classification

Localized

  • Usually affects only the skin but may spread to the joints, bones & muscles
  • Not associated w/ Raynaud’s phenomenon or significant internal organ manifestations
    • Morphea
      • Circumscribed discolored patches on the skin w/ sclerotic changes in 1 anatomic site
      • Involvement confined in the subcutaneous tissue
      • Very localized form of scleroderma
    • Linear
      • Streaks or band of thick, hard skin on the arms & legs, & subcutaneous tissue abnormalities in dermatomal distribution affecting usually 1 side of the body
      • Most common form of localized scleroderma in children
      • En coupe sabre is a type of linear localized scleroderma in which there are sclerotic lesions on the face, scalp or forehead

Systemic (Systemic Sclerosis)

  • Hardening of the skin & Raynaud’s phenomenon are the clinical hallmarks of the disease
  • Usually occurs in women ages 30-50 yrs
    • Limited
      • Skin thickening is mainly limited in the forearms, hands, face & neck, may also affect the lungs & digestive system [eg pulmonary arterial hypertension, severe gastroesophageal reflux disease (GERD), Raynaud’s phenomenon]
      • Physical exam shows telangiectasia, calcinosis cutis, sclerodactyly & digital ischemic complications
    • Diffuse
      • More extensive skin involvement affecting the arms up to the shoulder w/ more serious & extensive internal organ involvement (eg interstitial lung disease & renal crisis)
      • Tendon friction rubs & pigment changes are the common physical exam findings
    • Systemic sclerosis sine scleroderma
      • Type of systemic scleroderma that only affects the internal organs
    • Environmentally-induced scleroderma
      • Postive for history of exposure to a scleroderma-inducing environmental agent & diffuse skin sclerosis
    • Overlap syndromes
      • Type of systemic scleroderma w/ concomittant autoimmune rheumatic disease (eg rheumatoid arthritis, SLE)
    • Pre-scleroderma
      • Raynaud’s phenomenon, nailfold capillary changes, & antibodies such as anti-topoisomerase-I (Scl-70), RBA polymerase-I/II/III are present

Laboratory Tests

  • There is no definitive diagnostic test for scleroderma
  • Serologic tests confirm but not exclude diagnosis of scleroderma

Antinuclear antibodies (ANA) panel

  • Will show homogeneous, speckled, or nucleolar patterns
  • Nucleolar pattern is most specific for systemic sclerosis

Anti-DNA topoisomerase I (anti-Scl-70)

  • Highly specific & moderately sensitive for diffuse systemic sclerosis
  • Associated w/ higher risk for severe interstitial lung disease

Anti-RNA polymerase II

  • Also present in patients w/ systemic sclerosis & systemic lupus erythematosus

Anti-RNA polymerase III

  • Highly specific & moderately sensitive for diffuse systemic sclerosis
  • Associated w/ higher risk for scleroderma renal crisis

Anti-DNA topoisomerase 1 (Scl-70)

  • Usually present in patients w/ diffuse systemic sclerosis
  • Associated w/ higher risk for severe interstitial lung disease

Anti-beta2-glycoprotein I (β2GPI) antibodies

  • Usually present in scleroderma patients w/ macrovascular disease
  • Associated w/ higher risk for active digital ischemia, loss of digits secondary to ischemia, & PAH

Fibrillarin (U3-RNP) antibodies

  • Associated w/ higher risk of systemic sclerosis-associated PAH & skeletal muscle involvement

Anti-PM-Scl autoantibodies

  • Usually present in systemic scleroderma patients w/ myositis

Anticentromere antibodies (ACA)

  • Highly specific & moderately sensitive for limited systemic sclerosis

Organ Specific Assessments:

  • Joint radiographs for arthritis
  • Barium swallow, cine esophagography, endoscopy, esophageal manometry for gastrointestinal complications
  • Chest radiograph, pulmonary function test, lungs CT scan, bronchoscopy w/ biopsy, gallium lung scan, bronchoalveolar lavage to check for pulmonary complications
  • ECG ambulatory (Holter), ECG monitoring, echocardiography, cardiac MRI, cardiac catheterization to assess for cardiac complications
  • Renal biopsy & urinalysis for renal complications
  • Skin biopsy for localized scleroderma
  • Creatine kinase measurements, erythrocyte sedimentation rate & C-reactive protein measurements for myositis, malignancy or overlap of systemic sclerosis w/ another autoimmune diseases
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