Systemic Scleroderma

Reviewed on 12/6/2022
What is systemic scleroderma?
Systemic sclerosis is a chronic autoimmune disease that affects the skin and internal organs.

Scleroderma is a set of illnesses that affect about 300,000 people in the United States. Scleroderma that affects only the skin is referred to be “localized,” but when it affects the skin and internal organs, it is called systemic sclerosis. It is a chronic ailment. A rheumatologist treats and monitors it, and other types of medical specialists should frequently be consulted.

What is Systemic Scleroderma?

Scleroderma is a chronic, uncommon, autoimmune disease in which normal tissue is replaced by thick, dense fibrous tissue. The immune system generates inflammation and other abnormalities in these tissues.

Usually, the immune system aids in the body's defense against infections and diseases. In people with scleroderma, the immune system causes other cells to produce excessive collagen (a protein). This extra collagen accumulates in the organs and skin, causing thickening and hardening (similar to the scarring process), which can cause issues with the lungs, kidneys, heart, gastrointestinal tract, and other organs.

Scleroderma has no known cure, but some of its variants are treatable with medications.

There are two types of sclerodermas:

  1. Localized scleroderma: Affects the skin and does not affect internal organs. Symptoms include thick bands or streaks, hard skin on the arms and legs (called linear scleroderma), or discolored patches on the skin (called morphea).
  2. Systemic scleroderma: The most severe type and can affect various organs, including the heart, lungs, kidneys, skin, muscles, joints, and blood vessels. There are two types:
    1. Limited cutaneous systemic scleroderma: Causes skin thickening and tightening, frequently affecting the fingers and toes. Also called CREST syndrome (stands for calcified nodules under the skin, Raynaud's phenomenon, problems with esophageal motion, thickening and tightening of the skin in the finger, and dilated blood vessels in the skin called telangiectasias). An additional problem associated with this kind is pulmonary hypertension. Centromere antibodies, detected through a blood test, are frequently observed.
    2. Diffuse cutaneous systemic scleroderma: The skin frequently thickens and tightens from the hands to above the wrists. Usually associated with internal organs, such as the lungs, kidneys, or gastrointestinal tract. Scl-70 antibody is most frequently associated with this kind of scleroderma. Discovery of more recent antibodies is underway to define it.

What Are the Symptoms of Systemic Scleroderma?

In addition to the thickening of their skin, a person with scleroderma may have the following symptoms:

  • Swelling of the hands and feet
  • Joint contractures (rigidity)
  • Tight, mask-like facial skin
  • Ulcerations on the fingertips
  • Toes stiffness and discomfort in the joints
  • Ongoing cough
  • Breathing difficulty
  • Red spots on the skin (telangiectasias)
  • Excessive calcium deposition in the skin (calcinosis)
  • Heartburn (acid reflux)
  • Difficulty swallowing
  • Gastrointestinal and digestive issues
  • Constipation
  • Loss of weight
  • Fatigue
  • Hair loss

In addition to these symptoms, individuals present with Raynaud's phenomenon and Sjögren's syndrome. Between 85 and 95 percent of people with scleroderma get Raynaud's phenomenon. Primary Raynaud's syndrome is widespread and frequently manifests itself without any underlying connective tissue condition. Scleroderma will only appear in 10 percent of people with Raynaud's phenomenon.

Sjögren's syndrome is characterized by dry mouth and eyes. This dryness is brought on by a lack of saliva and tears, which is brought on by immune system damage and the death of the body's glands that produce moisture. Twenty percent of people with scleroderma experience it.

How is Systemic Sclerosis Diagnosed?

The diagnosis of systemic sclerosis is confirmed when essential symptoms are present, such as:

  • Sclerodactyly (skin tightening)
  • Abnormal nail folds on dermatoscopy or capillaroscopy
  • Autoantibodies (especially antiScl70 or anticentromere antibodies)
  • Fibrosis of internal organs and vascular damage

Investigations may include:

What is the Treatment for Systemic Scleroderma?

Scleroderma does not have a specific treatment. The healthcare provider will evaluate the severity of the disease in the skin, lungs, kidneys, heart, and gastrointestinal tract.

Individuals with extensive skin involvement (as opposed to localized skin involvement) could be more susceptible to internal organ and progressive diseases. Diffuse cutaneous systemic sclerosis is the term used for this variant of the illness. Body-wide (systemic) therapies are most frequently used. The person will be prescribed medications and other therapies to manage symptoms and avoid complications.

The following medications are used to treat progressive scleroderma:

  • Prednisone and other corticosteroids. Doses beyond 10 mg per day are not advised because higher amounts may result in excessive blood pressure and kidney damage.
  • Immune-suppressing medications, such as methotrexate, cyclophosphamide, cyclosporine, and mycophenolate
  • Arthritis treatment using hydroxychloroquine
  • For some people with rapidly progressing scleroderma, autologous hematopoietic stem cell transplantation could be used. This kind of treatment must be carried out in specialized facilities.

Additional therapies for symptoms could include:

  • Omeprazole (treats heartburn or swallowing issues)
  • Blood pressure medications (for high blood pressure or kidney issues, such as angiotensin-converting enzyme inhibitors)
  • Treatments to improve Raynaud’s phenomenon
  • Skin thickening is relieved by light therapy
  • Drugs that help the lungs function better, such as sildenafil and bosentan
  • Physical therapy is frequently used during treatment

Scleroderma Causes

Although scientists don't know exactly what causes scleroderma, they are certain that people cannot catch it from or transmit it to others. Studies of twins suggest it is also not inherited. Scientists suspect that scleroderma comes from several factors that may include:

Abnormal immune or inflammatory activity: Like many other rheumatic disorders, scleroderma is believed to be an autoimmune disease. An autoimmune disease is one in which the immune system, for unknown reasons, turns against one's own body.

In scleroderma, the immune system is thought to stimulate cells called fibroblasts so they produce too much collagen. The collagen forms thick connective tissue that builds up within the skin and internal organs and can interfere with their functioning. Blood vessels and joints can also be affected.

Genetic makeup: Although genes seem to put certain people at risk for scleroderma and play a role in its course, the disease is not passed from parent to child like some genetic diseases.

Environmental triggers: Research suggests that exposure to some environmental factors may trigger scleroderma-like disease (which is not actually scleroderma) in people who are genetically predisposed to it. Suspected triggers include viral infections, certain adhesive and coating materials, and organic solvents such as vinyl chloride or trichloroethylene. But no environmental agent has been shown to cause scleroderma. In the past, some people believed that silicone breast implants might have been a factor in developing connective tissue diseases such as scleroderma. But several studies have not shown evidence of a connection.

Hormones: Women develop scleroderma more often than men. Scientists suspect that hormonal differences between women and men play a part in the disease. However, the role of estrogen or other female hormones has not been proven.


National Institute of Arthritis and Musculoskeletal and Skin Diseases

Reviewed on 12/6/2022
Image Source: iStock image

Systemic scleroderma.



Systemic sclerosis.