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AutoimmuneICD-10: M34.9Affects approximately 75,000-100,000 people in the United States

Scleroderma

Scleroderma is a group of rare autoimmune diseases that cause hardening and tightening of the skin and connective tissues due to overproduction of collagen. In systemic scleroderma, the disease can also affect blood vessels and internal organs including the lungs, heart, kidneys, and digestive tract. The condition ranges from localized forms affecting only the skin to diffuse systemic sclerosis, which can be life-threatening.

Symptoms

Thickening and hardening of the skin, especially on the fingers and face
Raynaud's phenomenon (fingers turning white or blue in response to cold or stress)
Swollen, stiff, or painful joints
Difficulty swallowing (dysphagia) and acid reflux
Shortness of breath and dry cough from lung involvement
Skin ulcers on the fingertips
Fatigue and generalized weakness
Calcium deposits under the skin (calcinosis)

Causes

  • Overproduction of collagen by the immune system attacking connective tissue
  • Abnormal immune system activation and autoantibody production
  • Vascular damage leading to tissue fibrosis
  • Genetic predisposition combined with environmental triggers
  • Possible environmental exposures to silica dust, organic solvents, or certain drugs

Risk Factors

  • Female sex (women are affected 3-4 times more often than men)
  • Age between 30 and 50 years at onset
  • Family history of autoimmune diseases
  • Exposure to silica dust or polyvinyl chloride
  • African American or Native American descent (higher risk for severe forms)

Diagnosis

  • Physical examination of skin changes and Raynaud's phenomenon
  • Blood tests for autoantibodies (anti-centromere, anti-Scl-70, anti-RNA polymerase III)
  • Pulmonary function tests and high-resolution CT scan for lung involvement
  • Echocardiogram to assess heart and pulmonary artery pressure
  • Skin biopsy to confirm collagen overproduction
  • Nail fold capillaroscopy to examine small blood vessels

Treatment

  • Immunosuppressants (mycophenolate, methotrexate, cyclophosphamide) to slow disease progression
  • Calcium channel blockers (nifedipine) or PDE5 inhibitors for Raynaud's phenomenon
  • Proton pump inhibitors for gastrointestinal symptoms
  • ACE inhibitors for scleroderma renal crisis
  • Physical and occupational therapy to maintain joint flexibility
  • Antifibrotic drugs (nintedanib) for progressive lung fibrosis

Prevention

  • No known prevention, but early diagnosis improves outcomes
  • Avoid cold exposure and keep extremities warm to reduce Raynaud's episodes
  • Quit smoking to protect blood vessel health
  • Minimize exposure to silica dust and industrial chemicals
  • Regular monitoring of blood pressure and kidney function

When to See a Doctor

  • You notice unexplained skin thickening or tightening
  • Your fingers change color dramatically in response to cold or stress
  • You develop persistent difficulty swallowing, shortness of breath, or joint stiffness

Frequently Asked Questions

Related Conditions

Arthritis

Musculoskeletal

Acid Reflux (Heartburn)

Digestive

High Blood Pressure

Cardiovascular

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Medical Disclaimer: This content is for educational and informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment. Always consult a qualified healthcare provider.

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