Scleroderma

Scleroderma Generalized disorder of connective tissue affecting the skin , connective tissue and vasculature Peak age 40 -50 yrs age Female 4 : male 1 Limited disease , diffuse disease , CREST syndrome ( calcinosis , Raynaud’s , esophageal involvement , sclerodactyly and talangiectasia _)

Calcinosis

Calcinosis

Calcification

Marked Calcification

Marked Calcification involving the muscle

Calcinosis with nodules

Raynaud’s phenomenon

Esophageal dilatation

Early Sclerodactyly

Early sclerodactyly

Late Sclerodactyly

Talangiectasia

Etiology and pathogenesis Unknown etiology ( no genetic , geographical or race association ) Environmental factors as exposure to silica , dust , vinyl chloride , hypoxia resins and trichloroethylene ) Skin infiltration by T lymphocyte and abnormal fibroblast activation lead to increased production of collagen type I which results in thickening , tightening and induration of the skin (sclerodactyly )

Etiology and pathogenesis Arterial and arteriolar narrowing due to initial proliferation and vessel wall inflammation Endothelial injury causes release of vasoconstrictor and platelet activation

Clinical features Sclerodactyly proximal to MCP Js Most patients are ANA positive 30 % of diffuse disease and 60 % of limited disease have Ab to topoisomerase I and centromere respectively

Clinical features Cutaneous changes : Raynaud’s phenomenon is universal Non pitting oedema of the fingers and the flexor tendon sheath , then the skin become taut and shiny and distal skin creases disappear Erythema and tortuous dilatation of capillary loops in nail fold bed

Non pitting oedema of the fingers

Erythema and tortuous dilatation of capillary loops in nail fold bed

Taut skin and shiny

Clinical features Cutaneous changes : Skin involvement restricted to sites distal to the elbow or knee is classified as limited disease Involvement proximal to the knee and elbow and on the trunk is classified as diffuse disease Tissue ischemia leading to skin ulceration over pressure area , pulp atrophy of the finger tips

Tissue ischemia , skin ulceration and pulp atrophy

Digital loss

Perioral scleroderma with furrowing

Perioral scleroderma with furrowing

Clinical features Musculoskeletal features : Arthralgia , morning stiffness , flexor tenosynovitis Restricted hand function Erosive arthropathy is unknown Muscle weakness and wasting are usually due to myositis

Clinical features Gastrointestinal features Reflux with erosive eosophagitis ( Dysphagia and odynophagia Early satiety and occasionally outlet obstruction Recurrent occult upper GI bleeding may indicate watermelon stomach which occur in 20% of patients

erosive eosophagitis

Clinical features Gastrointestinal features Malabsorption due to bacterial overgrowth and intermittent bloating , pain or constipation Autonomic neuropathy may cause pseudo – obstruction

Clinical features Cardiorespiratory features : Fibrosing alveolitis in patient with diffuse disease Pulmonary hypertension more in limited than diffuse disease

Clinical features Renal features : Hypertensive renal crisis is the main cause of death ( presented with malignant hypertension and renal failure )

Management and Prognosis Hypertensive renal crisis is treated by angiotensin converting enzyme inhibitors Avoidance of peripheral cold exposure Calcium antagonist (nifedipine , amlodipine ) or angiotensin II receptor antagonist ( valsartan ) may be used for Raynaud’s symptoms

Management and Prognosis For digital ischemia intermittent infusion of prostacyclin may be helpful Steroids and cytotoxic drugs are used in myositis or alveolitis D- penicillamine and Interferon gamma may be used in skin

Mixed connective tissue disease His is an overlap connective tissue disease with features of SLE , scleroderma and myositis Synovitis and edema of the hands in combination of Raynaud’s phenomenon and muscle pain / weakness Most patients have anti – ribonucleoprotein (RNP ) antibodies