Scleroderma

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  • Also Known As:
  • Systemic Scleroderma
  • Systemic Sclerosis
  • Diffuse Cutaneous Systemic Sclerosis
  • Limited Cutaneous Systemic Sclerosis
  • Localized Scleroderma
  • Morphea
  • Linear Scleroderma
  • CREST
  • Circumscribed Scleroderma
  • Dermatosclerosis
  • Sine Scleroderma
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Autoantibodies

What is scleroderma?

Scleroderma is a complex, multisystem disease that often progressively affects the skin, blood vessels, lungs, digestive tract, kidneys, heart, muscles and bones. Scleroderma is inflammatory and has an autoimmune component. It has been associated with exposure to a variety of chemical agents, but the exact cause is not yet known. Individuals with scleroderma overproduce collagen, a fibrous protein that makes up connective tissue including skin, resulting in symptoms that range from cosmetic problems to tissue damage to life-threatening organ dysfunction.

Scleroderma is relatively rare and its prevalence is somewhat difficult to determine. About 75,000 to 100,000 people in the U.S. have the disease. Scleroderma can affect anyone at any age, including children, but most cases are seen in those who are 30 to 50 years old. Women are affected four times more often than men are.

Although a predisposition is not directly inherited, scleroderma is more common in some ethnic groups, such as the Choctaw Native Americans in Oklahoma, who have the highest prevalence of the disease over any other known population. Localized scleroderma is more common in those of European descent, while systemic scleroderma affects more women of African descent.

 

About Scleroderma

Systemic Sclerosis

Systemic sclerosis (systemic scleroderma) is a chronic condition that occurs in two forms:

Diffuse cutaneous systemic sclerosis—the diffuse subset is seen in 10% of systemic scleroderma, often progressing quickly, and is potentially fatal. It can affect large areas of skin, causing thickening and hardening of the skin (sclerosis), abnormal changes with the arteries, joint problems, and dysfunction of major organs, such as the intestinal tract, heart, lungs, and kidneys.

Limited cutaneous systemic sclerosis—the limited subset typically affects specific areas of the body such as the skin of the fingers, hands, lower arms and legs, elbow joints, and face. It progresses gradually. It is often associated with the CREST syndrome, defined as follows:

  • Calcinosis: small calcium deposits that develop under the skin, primarily on the fingers, knees and elbows; they can become infected and can cause painful, open sores when they break through the skin.
  • Raynaud phenomenon: blood vessels in the hands and feet contract in response to cold or stress with this condition. When this happens, blood flow decreases and the affected fingers and toes turn white, then blue. When blood flow returns to normal, they turn red. The recurrent or prolonged interruption in blood flow can damage tissues, leading to sores and, in some severe cases, to gangrene and the need for amputation. Mild to moderate Raynaud phenomenon is relatively common, and only a small percentage of those who have it also have systemic sclerosis.
  • Esophageal dysfunction: many people with systemic sclerosis have difficulty swallowing due to muscle dysfunction in their esophagus and may have acid reflux and chronic heartburn.
  • Sclerodactyly: this refers to the development of tight, thick skin, causing deformity of the fingers that are in a fixed, semiflexed position. There may also be loss of tissue on the finger pads (digital pitting) and shrinkage, giving them a sausage-like appearance with fingernails that may curve about the fingertip. The skin may be shiny and discolored.
  • Telangiectasia: associated with tiny red spots on the face and hands caused by the swelling of small blood vessels

In more severe cases of systemic sclerosis, the following organs may be affected:

  • Lungs: fibrosis can stiffen lung tissue, making it harder to breathe and leading to low oxygen levels, causing fatigue and shortness of breath, and to pulmonary hypertension (high blood pressure in the lungs), which can cause congestive heart failure. Lung dysfunction is the leading cause of death in people with systemic sclerosis.
  • Kidney: systemic sclerosis can cause acute renal crisis that can be life-threatening. It can also cause hypertension and chronic kidney disease.
  • Heart: Less commonly, and more likely to occur after several years, systemic sclerosis can affect the heart, leading to heart palpitations and congestive heart failure.

Complications associated with systemic sclerosis that may also be associated with other disorders and present with overlapping clinical features include:

  • Dental problems: the face may be affected, making the mouth opening narrower and making teeth cleaning and dental care more difficult.
  • Mask-like face: tightening of the skin may cause an expressionless, mask-like face.
  • Carpal tunnel syndrome
  • Erectile dysfunction, sexual dysfunction in women
  • Underactive thyroid (hypothyroidism)
  • Hearing loss
  • Depression

Localized Scleroderma

Localized scleroderma, also known as morphea, is characterized by the deposition of excessive collagen in the skin, causing one or many patches or lines of thickened, hardened skin. The skin may be reddened or white with purplish borders. In some cases, large areas of the skin may have patterns of hypo- and hyper-pigmentation. Morphea lacks some of the characteristics seen in the systemic form, such as sclerodactyly, Raynaud phenomenon, fingernail changes, telangiectasia, and organ involvement.

Signs and Symptoms

The signs and symptoms that a person with scleroderma experiences may range from mild to debilitating and, in some cases, may be life-threatening. They depend upon the type and severity of the scleroderma and the organs affected and will vary both from person to person and over time. Many of the symptoms may also be seen with other disorders and some are nonspecific. Examples include:

  • Thickening and hardening of the skin
  • Raynaud phenomenon
  • Joint pain, joint contractures (rigidity)
  • Swelling of hands and feet
  • Gastroesophageal reflux and difficulty swallowing
  • Fatigue, muscle weakness
  • Dry mouth and mucus membranes
  • Loss of appetite
  • Unexplained weight loss
  • Constipation, diarrhea, and malnutrition

Tests

Diagnosis of scleroderma is largely based upon clinical signs and symptoms, with specific laboratory testing ordered to help confirm or rule out the condition and more routine or general testing used to help evaluate your general health status. When the symptoms and test results are typical, diagnosing the condition may be relatively straightforward. In many cases, however, symptoms develop slowly and may initially be mistaken for other conditions.

Laboratory tests
There is no one laboratory test that can diagnose scleroderma. Usually, a series of tests is performed to detect the presence or absence of autoantibodies that are generally associated with the diagnosis of scleroderma. They include:

  • Antinuclear antibodies (ANA) – this test is positive with a variety of connective tissue and autoimmune disorders; ANA are present in about 95% of those with scleroderma, typically with a speckled, centromere, or – more rarely – nucleolar pattern test result.
  • Scl-70 antibody (Scleroderma antibody, Anti-topoisomerase I antibody) – positive in up to 60% of adults with systemic sclerosis
  • Centromere antibody (ACA)/centromere pattern – present in 50-96% of people with limited cutaneous scleroderma and strongly associated with CREST syndrome
  • Other, less frequently ordered tests for autoantibodies include anti-fibrillarin (U3RNP), anti-PM/Scl, anti-RNA polymerases I/III, anti-Nor-90, anti-PM-Scl, anti-B23, anti-U1-RNP, AHAs (anti-histone), and anti-Th/To. These tests are not routine and samples are often sent to a reference laboratory for testing.

Sometimes, a biopsy may be performed to evaluate fibrosis in affected tissue.

General and routine testing that may be ordered to help monitor your health status may include:

Non-laboratory tests

  • Lung function tests may be performed when it is suspected that your lungs have been affected.
  • CT (computed tomography) scans may be performed to look for lung damage.
  • X-rays may be done to detect calcium deposits and evaluate the health of your lungs.
  • Cardiac testing and monitoring may be performed when it is suspected that your heart has been affected.

Treatment

There is no cure for scleroderma. In many cases, symptoms stabilize and begin to ease after several years. Skin may soften but remain discolored and may become fragile. Tissue and organ damage can often be permanent.

Treatment of scleroderma is focused on managing symptoms, minimizing damage to organs and tissues, and maintaining mobility in affected joints. Treatments may include the following:

  • For Raynaud phenomenon: keeping hands and feet warm and avoiding temperature extremes, avoiding smoking and, in some cases, medications to help improve blood flow and reduce high blood pressure
  • For esophageal dysfunction and gastrointestinal reflux: eating small meals and avoiding spicy foods as well as medications such as proton pump inhibitors, antacids, or H2-blockers

Other treatments may include:

  • Non-steroidal anti-inflammatory drugs (NSAIDs) and other pain relievers as well as medications to reduce inflammation
  • Corticosteroids and other immune suppressants
  • Medications for hypertension
  • Topical skin treatments for open sores and itching
  • Physical and occupational therapy may be indicated to maintain muscle strength and range of motion.
  • Dental treatments may help to improve flexibility in the jaw muscles and maintain oral health.
  • Sometimes, surgery is necessary to address tissue damage, joint contractures, calcium deposits, or other complications.

For more information on treatments, see the links in Related Content.

Related Content

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Sources Used in Current Review

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