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Scleroderma

Scleroderma. Three major disease subsets: Based on extent of skin dz Diffuse disease - skin abnormalities extending to the proximal extremities (AKA - PSS) Limited disease AKA "CREST" syndrome Calcinosis, Raynauds, Esophageal dysmotility Sclerodactyly, Telangiectasias Localized Scleroderma

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Scleroderma

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  1. Scleroderma Three major disease subsets: Based on extent of skin dz • Diffuse disease - skin abnormalities extending to the proximal extremities (AKA - PSS) • Limited disease AKA "CREST" syndrome • Calcinosis, Raynauds, Esophageal dysmotility Sclerodactyly, Telangiectasias • Localized Scleroderma • Morphea: manifests as focal patches • Linear scleroderma: band-like (linear) areas of thickening. (Coup de Sabre)

  2. Other causes of Tight Skin • Pseudosclerodactyly • IDDM, Hypothyroidism • Drugs: Tryptophan, bleomycin, pentazocine, vinyl chloride, solvents • Eosinophilic fasciitis • Overlap Conditions • Scleroderma-like conditions • Eosinophil myalgia syndrome (tryptophan) • Porphyria cutanea tarda

  3. ACR Systemic Sclerosis Preliminary Classification Criteria* • Major Criterion • Proximal Scleroderma • Minor Criteria • Sclerodactyly • Digital pitting or scars or loss of finger pad • Bibasilar pulmonary fibrosis * One major and two minor required for diagnosis

  4. Scleroderma: Onset • 80% females • Age: 50% are < 40 yrs @ onset (20-50) • Incidence 20/million/year • Raynauds • Swollen or puffy digits • Loss of skin folds, no hair growth • Digital pulp sores/scars • Arthralgias >> Arthritis

  5. SclerodermaA disorder of Collagen, Vessels • Etiology: unknown? • Autoimmune disorder suggested by the presence of characteristic autoantibodies such as ANA, anti-centromere and anti-SCL-70 antibodies. • Pathology: • Early dermal changes lymphocytic infiltrates primarily of T cells • Major abnormality is collagen accumulation with fibrosis. • Small to medium-sized blood vessels, which show bland fibrotic change. • Small thrombi may form on the altered intimal surfaces. • Microvascular disease Cold Normal Cold PSS

  6. PSS - Clinical • Skin: • Skin thickening is most noticeable in the hands, looking swollen, puffy, waxy. • Thickening extends to proximal extremity, truncal and facial skin thickening is seen. • Raynaud's phenomenon is present. • Digital pits or scarring of the distal digital pulp • Musculoskeletal: Arthralgias and joint stiffness are common. • Palpable tendon friction rubs associated with an increased incidence of organ involvement. • Muscle weakness or frank myositis can be seen.

  7. PSS - Clinical • Gastrointestinal: Esophageal dysmotility, dysphagia, malabsorptive or blind loop syndrome, constipation. • Renal: Kidney involvement is an ominous finding and important cause of death in diffuse scleroderma. A hypertensive crisis (AKA renal crisis) may herald the onset of rapidly progressive renal failure.

  8. Pulmonary Manifestations of PSS • Dyspnea • Pulmonary HTN only in CREST • Interstitial fibrosis (fibrosing alveolitis) • High resolution CT vs Galium Scan • Major cause of death • RARE: • Pulmonary embolism • Pulmonary vasculitis

  9. Cardiac Findings in PSS • Myocardial fibrosis • Dilated cardiomyopathy • Cor pulmonale • Arrhythmias • Pericarditis • Myocarditis • Congestive heart failure

  10.  Feature Limited+ CREST Diffuse+ PSS  Calcinosis ++ +  Arthralgia/Arthritis  ++  ++++  Pulmonary fibrosis  +  ++  Pulmonary HTN  +  0  Tend friction rubs  0 +++  Renal crisis 0  +  Centromere Ab*  +++ +/0  Anti-Scl 70 Ab + ++ Comparison CREST v. PSS * Ab: antibody + Relative percentages: +++++ 81-100%; ++++ 61-80%; +++ 41-60%; ++ 21-40%; + 1-20%

  11. Treatment of Scleroderma • Localized: none • Raynauds: warmth, skin protection, vasodilator therapy • CREST: none • PSS: none proven • Penicillamine: controversy • Cytoxan: for lung disease? • Steroids have no value

  12. PolymyositisDermatomyositis • F:M = 2:1 • Acute onset • Weakness (+ myalgia): Proximal > Distal • Skeletal muscle: dysphagia, dysphonia • Sx: Rash, Raynauds, dyspnea • 65% elevated CPK, aldolase • 50% ANA (+) • 90% +EMG; 85% + muscle biopsy

  13. Proposed Criteria for Myositis • Symmetric proximal muscle weakness • Elevated Muscle Enzymes (CPK, aldolase, AST, ALT, LDH) • Myopathic EMG abnormalities • Typical changes on muscle biopsy • Typical rash of dermatomyositis • PM Dx is Definite w/ 4/5 criteria and Probable w/3/5 criteria • DM Dx Definite w/ rash and 3/4 criteria and Probable w/ rash and 2/4 criteria

  14. Polymyositis ClassificationBohan & Peter • Primary idiopathic dermatomyositis • Primary idiopathic polymyositis • Adult PM/DM associated with neoplasia • Childhood Dermatomyositis (or PM) • often associated with vasculitis • Myositis associated with collagen vascular disease

  15. MYOPATHY: HISTORICAL CONSIDERATIONS • Age/Sex/Race • Acute vs. Insidious Onset • Distribution: Proximal vs. Distal • Pain? • Drugs/Pre-existing Conditions • Neuropathy • Systemic Features

  16. MYOPATHIIES • Toxic/Drugs • Etoh, Cocaine, Steroids, Plaquenil, Penicilamine, Colchicine, AZT, Lovastatin, Clofibrate, Tryptophan, Taxol, Emetine • Infectious • Coxackie A9, HBV, HIV, Stept., Staph, Clostridial, Toxoplasma, Trichinella • Inflammatory Myopathies • Congenital • Neuropathic/Motor Neuron Disorders • Endocrine/Metabolic

  17. INFLAMMATORY MYOSITISImmunopathogenesis • Infiltrates - T cells (HLA-DR+) & monocytes • Muscle fibers express class I & II MHC Ags • T cells are cytotoxic to muscle fibers • t-RNA antibodies: role? FOUND IN <50% OF PTS • Infectious etiology? Viral implicated • HLA-B8/DR3 in childhood DM • DR3 and DRW52 with t-RNA synthetase Ab

  18. DERMATOMYOSITIS5 Skin Features • Heliotrope Rash: over eyelids • Seldom seen in adults • Gottrons Papules: MCPs, PIPs, MTPs, knees, elbows • V-Neck Rash: violaceous/erythema anterior chest w/ telangiectasias • Periungual erythema, digital ulcerations • Calcinosis

  19. Calcinosis

  20. DIAGNOSTIC TESTING • Physical Examiniation: Motor Strength (Gowers sign), Neurologic Exam • Acute phase reactants unreliable • Muscle Enzymes • CPK: elevated >65%; >10% MB fraction is possible • Muscle specific- Aldolase, Troponin, Carb. anhydraseIII • AST > LDH > ALT • Beware of incr. creatinine (ATN) and myoglobinuria • Electromyogram: increased insertional activity, amplitude, polyphasics, associated neuropathic changes, incremental/decremental MU changes

  21. DIAGNOSTIC TESTING • Muscle Biopsy (an URGENT not elective procedure) • Call the neuropathologist! 85% Sensitive. • Biopsy involved muscle (MRI guided) • Avoid EMG/injection sites or sites of trauma • Magnetic Resonance Imaging - detects incr. water signal, fibrous tissue, infiltration, calcification • Investigational: Tc-99m Scans, PET Scans • Serologic Tests: ANA (+) 60%, Abs against t-RNA synthetases

  22. INFLAMMATORY MYOSITISBiopsy Findings • Inflammatory cells • Edema and/or fibrosis • Atrophy/ necrosis/ degeneration • Centralization of nuclei • Variation in muscle fiber size • Rarely, calcification

  23. Anti-synthetase syndrome: ILD, fever, arthritis, Raynauds, Mechanics hands

  24. MALIGNANCY & MYOSITIS • Controversial • Reports range from 10-25% • If real, men over age 50 yrs at greatest risk • Common tumors: Breast, lung, ovary, stomach, uterus, colon • 60% the myositis appears 1st, 30% neoplasm 1st, and 10% contemporaneously • Avoid invasive, expensive searches for occult neoplasia

  25. PULMONARY Aspiration pneumonitis Infectious pneumonitis Drug induced pneumonitis Intercostal, diagphragm involvement Fibrosing alveolitis RARE: Pulmonary vasculitis Pulmonary neoplasia CARDIAC Elev. CPK-MB Mitral Valve prolapse AV conduction disturbances Cardiomyopathy Myocarditis PM/DM Complications

  26. PM/DM Diagnosis • Symmetric progressive proximal weakness • Elevated muscle enzymes (CPK, LFTs) • Muscle biopsy evidence of myositis • EMG: inflammatory myositis • Characteristic dermatologic findings

  27. INFLAMMATORY MYOSITISTreatment • Early Dx, physical therapy, respiratory Rx • Corticosteroids : 60-80 mg/day • 80% respond within 12 weeks • Steroid resistant • Methotrexate • Azathioprine • IVIG, Cyclosporin, Chlorambucil: unproven • No response to apheresis

  28. PROGNOSIS • Poor in pts. with delayed Dx, low CPK, early lung or cardiac findings, malignancy • Neoplasia in 10% of adults • PT for muscle atrophy, contractures, disability • Kids:50% remission, 35% chr active disease • Adult < 20 yrs. do better than >55 yrs. • Adults: Mortality rates betw. 28-47% @ 7 yrs. • Relapses & functional disability are common • Death: due to malignancy, sepsis, pulm. or cardiac failure, and complications of therapy

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