• Clinical science

Systemic sclerosis (Scleroderma)

Abstract

Systemic sclerosis (SSc) is a chronic disease caused by abnormal growth of connective tissue, which leads to diffuse thickening and hardening of the skin and often the inner organs. SSc is categorized into limited SSc and diffuse SSc. The more common, limited form of SSc begins with sclerosis of the fingers, hands, and face, which then progresses to the center of the body. Limited SSc is often associated with symptoms of CREST syndrome (calcinosis cutis, Raynaud's phenomenon, esophageal dysmotility, sclerodactyly, and telangiectasia) and may be followed by internal organ involvement as the disease progresses. Diffuse SSc is less common, but more aggressive, with early organ system involvement that may be life-threatening if damage to the heart, lungs, or kidneys occurs. Treatment is symptomatic and based on the extent of skin and organ system involvement. In the case of diffuse inflammation of the skin and/or organs, immunosuppressive drugs (e.g., methotrexate) should be administered. The prognosis varies depending on which organs are involved, with pulmonary arterial hypertension, interstitial lung disease, and cardiac disease significantly increasing the mortality rate.

Epidemiology

  • > (3:1)
  • Higher incidence in African Americans
  • Peak incidence: 30–50 years

References:[1][2]

Epidemiological data refers to the US, unless otherwise specified.

Pathophysiology

  • The pathophysiology of SSc is not completely understood

References:[3]

Clinical features

Common symptoms

  • Cutaneous findings
    • Thickening and hardening of the skin
    • Sclerodactyly
      • Red-blue discoloration of the fingers
      • Edema and fibrosis with waxy appearance of the skin and limited range of motion
      • Atrophy and necrotic spots
      • Lesions on the proximal nail fold
    • Multiple, painful ischemic digital ulcers
    • Face
      • Loss of expression (mask-like facies)
      • Shortened frenulum
      • Microstomia accompanied with characteristic perioral wrinkles
  • Vascular disease
  • Fatigue, weakness
  • Joint stiffness/pain

Limited cutaneous systemic sclerosis

  • In 90% of cases, Raynaud's phenomenon precedes the onset of other symptoms.
  • Skin manifestations are usually restricted to the hands, fingers, and face.
  • Extracutaneous organ involvement may occur.
  • Often manifests as CREST syndrome:

Diffuse cutaneous systemic sclerosis

References:[1][4][5][6][7][8]

Diagnostics

References:[9][10]

Differential diagnoses

Eosinophilic fasciitis

Mixed connective tissue disease (MCTD, Sharp's syndrome)

References:[11][12][13]

The differential diagnoses listed here are not exhaustive.

Treatment

Treatment focuses on organ-specific, symptomatic therapy. In the case of diffuse cutaneous disease or severe organ involvement, immunosuppressive therapy is indicated.

References:[14]

last updated 10/16/2018
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