Scleroderma is an autoimmune disorder that may involve changes in the skin, blood vessels, muscles, and internal organs. There are two main types: localized scleroderma, which affects only the skin; and systemic scleroderma, which affects the blood vessels and internal organs, as well as the skin. These two main types also have sub-types.

Localized scleroderma subtypes include:

  • Linear scleroderma
  • Morphea

Systemic scleroderma subtypes include:

  • Diffuse cutaneous systemic sclerosis
  • Limited cutaneous systemic sclerosis (which includes CREST syndrome)
  • Limited Systemic Sclerosis

 

 

Causes

The underlying cause of scleroderma is currently unknown; however, some scientists suspect it may be related to a buildup of collagen in the skin and other organs due to an abnormal immune system response. Some cases of scleroderma are induced by environmental factors or occur in association with other underlying disorders such as rheumatoid arthritis, lupus or Sjogren syndrome. 

 

Signs and Symptoms

The most common symptoms of localized scleroderma include:

  • Cigarette-paper scars
  • Hyperpigmentation of the skin
  • Hypopigmentation of the skin
  • Stiff skin

The most common symptoms of systemic scleroderma include:

  • Abnormality of the gastric mucosa
  • Arthralgia
  • Arthritis
  • Atypical scarring of skin
  • Autoimmunity
  • Chest pain
  • Chondrocalcinosis
  • Cough
  • Edema
  • Fatigue
  • Gastroparesis
  • Hyperkeratosis
  • Lack of skin elasticity
  • Myalgia
  • Nausea and vomiting
  • Skeletal muscle atrophy

 

 

Management Strategies / Treatments

The following have been approved by the FDA as orphan drugs for systemic scleroderma:

  • Nintedanib (Brand name: Ofev)

 

Clinical Trials

For a full list of clinical trials relating to scleroderma, go here.

 

 

Resources

Scleroderma Foundation

Scleroderma Research Foundation

Steffens Scleroderma Foundation

 

To learn more about Scleroderma and other Autoimmune/Auto-inflammatory Disorders visit https://checkrare.com/diseases/autoimmune-auto-inflammatory-disorders/