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Systemic Sclerosis

Definition - This is a generalised disorder of connective tissue characterised by fibrosis and degenerative changes in the skin (scleroderma) and many internal organs. 
Etiopathogenesis - Due to immunologically determined inflammation causing intimal thickening of small blood vessels leading to impaired microcirculation in the all body organs.
Age: F>>M, 30–50 Yrs
  1. Skin Changes
    1. Non–pitting oedema and induration associated with ‘sausage’ swelling and restriction of movement of the fingers.
    2. Sclerodactyly is a localized thickening and tightness of the skin of the fingers or toes.
    3. Skin becomes shiny with atrophy and ulceration of the finger tips with or without associated calcinosis. Hyperpigmentation and telangiectasis become taut and ‘mask – like’ with ‘beaking’ of the nose and difficulty in opening the mouth (microstomia).
    4. Thickening of skin is the most easily recognizable manifestation of scleroderma.
    5. Early in the course of diffuse scleroderma, the skin appears edematous and inflamed with erythema and pigmentary changes. Hyperpigmented areas of skin due to deposition of melanin alternate with vitiligo like areas of depigmentation, this imparts the skin a salt and pepper appearance.
Extra Edge (Ref. Hari. 18th ed., Pg- 2762 - 63)
Raynaud's Phenomenon:
  1. It is usually the presenting complaint and may precede other features of the disease by months or years.
    1. Raynaud's phenomenon is an episodic vasoconstriction in the fingers and toes that occurs in virtually every patient with scleroderma. Vasoconstriction may also affect the tip of the nose and earlobes. 
    2. Attacks are triggered by exposure to cold, a decrease in temperature, emotional stress, and vibration. 
    3. Typical attacks start with pallor, followed by cyanosis of variable duration. 
    4. Eventually erythema develops spontaneously or with rewarming of the digit. 
    5. The progression of the three color phases reflects the underlying pathogenic mechanisms of vasoconstriction, ischemia, and reperfusion. 
  2. Healing of ischemic fingertip ulcerations leaves characteristic fixed digital "pits." Loss of soft tissue at the fingertips due to ischemia is frequent and may beassociated with striking resorption of the terminal phalanges (acro-osteolysis). 


Patients scleroderma are typically classified based on the amount and location of skin involvement.
  1. Diffuse scleroderma
    1. Widespread skin involvement
    2. Rapid progression and early visceral involvement
  2. Limited scleroderma
    1. Limited skin involvement, confined to fingers, forearms
    2. When skin alone is involved then it is known as Morphea. (AIPG 2010)
CREST syndrome which is a combination of
  1. Calcinosis: subcutaneous calcifications of fingers and along extensor surface of forearm
  2. Raynaud phenomenon
  3. Esophageal dysmotility
  4. Sclerodactyly (skin thickening limited to fingers) 
  5. Telangiectasia (dilated capillaries)
  1. Systemic features:
    1. Musculoskeletal Manifestations
    2. There is arthralgia and a mild non – erosive inflammatory arthritis. 
    3. Inflammation of synovium with hypertrophy and hyperplasia of synovial soft tissues.
      1. Closely reminiscent of rheumatoid arthritis but joint destruction is not common.
Important Points

Scleroderma is associated with resorption of long bones and not their sclerosis.

  1. The Gastrointestinal Tract
    1. This is involved in the majority of patients. There is involvement of the lower two thirds of the esophagus resulting in loss o esophageal peristalsis and dysphagia
    2. GAVE
      1. Gastroparesis with early satiety, abdominal distention, and aggravated reflux symptoms is common. 
      2. Gastric antral vascular ectasia (GAVE) in the antrum may occur. 
      3. These subepithelial lesions, reflecting the diffuse small-vessel vasculopathy of SSc, are described as "watermelon stomach" due to their endoscopic appearance. 
      4. Patients with GAVE can have recurrent episodes of gastrointestinal bleeding, resulting in chronic unexplained anemia. (Ref. Hari. 18th ed., Pg - 2765)
    3. Later on abdominal pain, intestinal obstruction, malabsorption and weight loss occurs due to intestinal involvement.
  2. Pulmonary Manifestations
    1. Pulmonary interstitial fibrosis
    2. Pulmonary hypertension (AIIMS Nov 12)
    3. RVF
  3. Cardiac Manifestations
    1. Pericarditis, hypertension
    2. Cardiomyopathy
    3. AR
    4. Ischemic heart disease may occur due to vasospasm of the coronary arteries. 
    5. Left ventricular failure may occur secondary to hypertension. 
  4. Renal Involvement
    1. There is intimal hyperplasia of the interlobular arteries, fibrinoid necrosis of the afferent arterioles, including the glomerular tuft, and thickening of the glomerular basement membrane. 
    2. This change results in the development of renin induced hypertension. 
    3. Sudden renal failure can occur. 
  5. Other sites of Involvement
    1. Lymphocytic infiltration of minor salivary glands may occur leading to xerostomia (dry month)
    2. Hypothyroidism (LQ 2012) occur in a significant number of patients and may be associated with high levels of antithyroid antibodies. 
    3. Trigeminal neuralgia may occur
Antibodies seen are
  1. Antinuclear antibodies.
  2. Antibodies to single stranded RNA
  3. Anti - Scl - 70 seen in generalize scleroderma.
  4. Anticentromere antibody. These autoantibodies are seen in patients with CREST syndrome.
  5. Antiendothelial cell antibody.
Recent Advances
Newer diagnostic antibodies in Scleroderma.
  1. RNA polymerase III – Associated with renal crises. (Ref. Hari. 18th ed., pg - 2760)
  2. U3-RNP
  3. U1-RNP


  1. D – Penicillamine
  2. Glucocorticoids
  3. Hypertension, treated with drugs such as alpha – methyldopa, calcium channel blockers or ACEI, as these drugs may alleviate Raynaud’s phenomenon. 
Beta – blockers are contraindicated in treating hypertension, as they may precipitate Raynaud’s phenomenon. 


Recent Advances
  1. Bosentan: It is a new drug(PNQ) being used for Raynaud’s phenomenon. It is a endothelin receptor antagonist
  2. Immuno therapy for disease modification in systemic sclerosis.
    1. Cell based immune therapy – Autologous Stem cell transplantation.
    2. T cell targeted therapy – Anti thymocyte globulin
    3. B cell target therapy – Rituximab
    4. Intravenous immunoglobulin
    5. Biological immunotherapy – Infliximab
    6. Antifibrotic agent – Imatinib

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