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Scleroderma

Pubmed eg: [1,2,]
  • hallmarks of Systemic Sclerosis (SSc):
    • triad of
      1. obliterative small-vessel vasculopathy in multiple vascular beds (ultimately loss of microvasculature)
        • Raynauds
        • cutaneous telangiectasia
        • nail fold capillary alterations
        • pulmonary arterial hypertension
        • gastric antral vascular ectasia
        • scleroderma renal crisis with malignant hypertension
      2. inflammation
      3. autoimmunity

    • leading to: progressive interstitial and perivascular fibrosis
      • skin
      • lungs
      • GIT
      • heart
      • tendon
      • ligaments
      • endocrine glands
      • perivascular
  • Types
    • diffuse cutaneous SSc
      • rapidly progressive fibrosis of skin, lungs, other organs
      • mortality: 55% in 10yrs [2007]
      • AutoAb in diffuse disease: U3RNP=U3 ribonuclear protein, Topo=Topoisomerase, Pol-III=polymerase III
    • limited cutaneous SSc
      • usu. vascular manifestations, only slow and limited fibrosis of skin and internal organs
      • AutoAb in limited disease: ACA=anticentromere Ab, Th/To=....?, U1RNP=U1 ribonuclear protein
  • positive FHx = strongest risk factor (familial: 1.6%, sporadic: 0.025%)
  • Etiology unknown; ?triggers: eg CMV, solvents, silica, ...
  • Autoantibodies [2]
    • AutoAb in diffuse disease: U3RNP=U3 ribonuclear protein, Topo=Topoisomerase, Pol-III=polymerase III
    • AutoAb in limited disease: ACA=anticentromere Ab, Th/To=....?, U1RNP=U1 ribonuclear protein
  • Therapy: ...
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