Updated: 2/3/2020

Scleroderma

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Introduction
  • Overview
    • scleroderma is an autoimmune skin disease characterized by progressive hardening and induration of the skin and/or other structures (such as the subcutaneous tissues, muscles, and internal organs)
  • Epidemiology
    • demographics
      • females > males (3-14:1)
      • African Americans > Caucasians
      • 30-50 years old but can affect all ages
      • can be rapidly progressive in pediatric patients 
    • risk factors
      • genetic predisposition
      • exposure to potential triggers
        • silica, solvents (such as benzene), radiation
  • Pathophysiology
    • etiology
      • multifactorial
        • includes genetic predisposition and environmental triggers
    • pathophysiology
      • triad
        • collagen deposition with fibrosis
          • excessive deposition of collagen and other elements of the extracellular matrix in skin and internal organs
        • noninflammatory vasculopathy
          • due to fibroproliferation of microvasculature
        • autoimmunity
          • chronic inflammation with alterations of humoral and cellular immunity
          • increased release of inflammatory cells help initiate and propagate the fibrotic process
  • Genetics
    • inheritance pattern
      • usually sporadic
    • mutations
      • HLA
      • STAT4
        • associated with limited scleroderma
      • IRF5
        • associated with diffuse scleroderma
  • Associated conditions
    • other autoimmune diseases
    • esophageal dysmotility
      • atrophy of smooth muscles in esophagus can cause decreased lower esophageal sphincter pressure and dysmotility, leading to increased dysphagia and acid reflux
  • Prognosis
    • diffuse scleroderma is rapidly progressive
      • pulmonary, renal, or cardiac involvement indicates a more severe prognosis
      • has one of the highest mortalities among systemic autoimmune diseases
Classification
  • Based on extent of involvement
    • limited
      • limited involvement of the skin (mostly affects face and hands)
      • subtype is CREST syndrome
        • Calcinosis cutis/anti-Centromere antibody
        • Raynaud phenomenom
        • Esophageal dysmotility
        • Sclerodactyly
        • Telangiectasia
    • diffuse
      • widespread involvement of the skin
      • affects internal organs (kidneys, lungs, heart)
      • rapidly progressive
Presentation
  • Symptoms
    • skin
      • diffuse pruritus
      • Raynaud phenomenon  
        • decreased blood flow to skin due to vasospams from either cold temperatures or stress
        • color of affected area, commonly the digits, change from white (ischemia) to blue (hypoxia) to red (reperfusion)
    • musculoskeletal
      • mylagias
      • arthralgias
      • osteolysis (especially calcaneal)
    • gastrointestinal
      • acid reflux 
    • respiratory
      • progressive dyspnea
      • dry cough due to restrictive lung disease
    • cardiac
      • palpitations or irregular heart beats
    • renal
      • hypertension
  • Physical exam
    • skin
      • tightness, induration, and hardening
        • affecting the fingers (sclerodactyly)
        • shiny with loss of “wrinkles” from skin folds
        • limited mobility due to skin tightening
          • PIP flexion contractures with compensatory MCP hyperextension
          • 1st webspace adduction contractures
      • digital ulceration
      • edema not responsive to diuresis
      • hyper- and hypopigmentation
      • telangiectasias on skin and mucosa
      • intracutaneous or subcutaneous calcinosis
    • respiratory
      • dry rales if there is pulmonary involvement
    • cardiac
      • symptoms of cor pulmonale if there is pulmonary involvement
        • jugular venous distention
        • edema
        • hepatomegaly
Imaging
  • CT
    • indications
      • to evaluate pulmonary involvement
    • findings
      • ground-glass appearance may indicate early lung fibrosis
      • honeycombing and bronchiolectasis indicate developed interstitial fibrosis
  • Angiography
    • findings
      • loss of flow to the digits
Studies
  • Labs
    • anti-centromere antibody
      • associated with limited scleroderma (CREST syndrome)
      • seen in ~50% of patients
    • anti-Scl-70 (anti-DNA topoisomerase I) antibody
      • associated with systemic scleroderma
      • seen in ~30% of patients
    • anti-nuclear antibody
      • seen in ~90-95% of affected patients
      • speckled or centromere pattern
      • nucleolar pattern is specific for systemic sclerosis
    • anti-histone antibody
      • also seen in drug-induced lupus, SLE, and RA
    • elevated inflammatory markers (ESR, CRP)
    • serum creatinine
      • to monitor for renal involvement
    • CXCL4
      • increase may indicate pulmonary fibrosis
    • N-terminal probrain natriuretic peptide
      • increase may indicate early pulmonary hypertension
  • Manometry
    • findings
      • aperistalsis in distal esophagus and decreased lower esophageal sphincter tone
  • Pulmonary function tests
    • used to detect early signs of pulmonary fibrosis
  • EKG
    • perform routine EKG to assess for cardiac involvement
Differential
  • Nephrogenic systemic fibrosis
  • Eosinophilic fasciitis
  • Graft-versus-host disease
Treatment
  • Nonoperative
    • immunosuppressive therapies
      • indications
        • to prevent progression of sclerosis, especially if the pulmonary system is involved
      • drugs
        • methotrexate
        • mycophenolate mofetil
        • cyclophosphamide
          • reserved for disease refractory to either methotrexate or mycophenolate mofetil
    • angiotensin-converting enzyme (ACE) inhibitor
      • indications
        • renal involvement of systemic sclerosis
    • anti-histamines
      • indications
        • pruritus
    • calcium-channel blockers
      • indications
        • Raynaud phenomenon
    • ambrisentan (endothelin receptor antagonist) and tadalafil (phosphodiesterase type 5 inhibitor) combination therapy
      • indications
        • pulmonary hypertension
  • Operative
    • I&D
      • indications
        • symptomatic calcinosis
    • PIP joint arthrodesis
      • indications
        • fixed PIP joint flexion deformity
    • MCP joint resection arthroplasty
      • indications
        • fixed MCP joint hyperextension deformity
    • adductor pollicis release +/- trapeziectomy
      • indications
        • 1st webspace contracture
    • amputation
      • indications
        • digital gangrene
Complications
  • Digital infarct/gangrene
  • Pulmonary hypertension
  • Pulmonary fibrosis
  • Renal failure
 

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