Table of Contents Types Clinical features SymptomsSignsFibrotic organ involvementInvestigations Management Test yourself Systemic sclerosis is a systemic autoimmune condition resulting in excessive collagen deposition by fibroblasts. Types Limited cutaneous systemic sclerosis: cutaneous sclerosis limited to below elbows Diffuse cutaneous systemic sclerosis: cutaneous sclerosis extends above elbows – more likely to get organ involvement Clinical features Symptoms Skin Thick, tight, itchy skin Usually affects the face, hands and feet but can progress to affect the whole body CREST features Calcinosis Raynaud’s Esophageal dysfunction (heartburn) Sclerodactyly (thickening and tightness of skin of fingers/toes) Telangiectasia Signs Hands Look: sclerodactyly, tight waxy skin, ulceration, blanching, finger-pulp atrophy Feel: subcutaneous calcinosis, cool hands Move: prayer sign lost (fixed flexion deformity of fingers) Face Mask-like face Skin tethering Telangiectasia Microstomia Beaked nose Raynaud’s phenomenonTelangiectasia Fibrotic organ involvement LungsFibrosis, pulmonary hypertensionHeartMyocardial fibrosis → arrhythmiasKidneysAcute or chronic kidney injury, hypertension, acute renal hypertensive crisesGutReflux, dysphagia, faecal incontinence Investigations Auto-antibodies Antinuclear (commonly positive but non-specific) Limited: anti-Centromere (CREST) Diffuse: anti-topoisomerase (anti-Scl-70) Assess extent of organ involvement (e.g. CXR/high-resolution CT, echocardiogram, ECG, U&Es, urinalysis, barium swallow) Hand X-rays (calcinosis) Management Immunosuppression options: methotrexate, mycophenolate mofetil, cyclophosphamide Autologous stem cell transplantation in select cases Prevention/management of organ-based diseaseRaynaud’s: hand warmers, Ca2+ antagonists (nifedipine), IV prostacyclins (iloprost), phosphodiesterase-5 inhibitorsSkin disease: immunosuppressionGI: proton pump inhibitor, upright posture after meals, laxitivesLung fibrosis: immunosuppression, oxygen therapyPulmonary hypertension: prostaglandins, endothelin antagonists, phosphodiesterase-5 inhibitors, oxygen therapyRenal crises: low dose ACE inhibitor Heart failure: immunosuppression, pacemaker, implantable cardioverter defibrillator, ACE inhibitor, carvedilol, diuretics Test yourself What is colour sequence of Raynaud’s phenomenon? Hands change colour in cold: White→Blue→Red Remember as White Before Red! What is the pathophysiology in Scleroderma renal crisis? Oops! This section is restricted to members.
