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Scleroderma: Types, Symptoms and Treatment

Scleroderma is a chronic autoimmune disorder in which the body mistakenly produces too much collagen, the main structural protein in connective tissue. The name of the disorder comes from the Greek words for “hard skin” which is the most visible symptom of scleroderma. This condition is not contagious.

The excess production of collagen, which characterizes scleroderma, is an autoimmune response, where the body’s immune system produces this substance to attack its own tissues which were identified as an outside invader.

Most forms of the disease only affect the skin and underlying muscle. More serious complications result when the disease also involves internal organs. In cases of localized scleroderma, the disorder is an irritating skin condition that eventually becomes inactive. However, in patients with the most serious complications, vital organs such as the lungs, heart or kidneys may be compromised and scleroderma may sometimes even lead to death.

When scleroderma affects the skin, excess collagen makes it harder, tighter and shiny. Joints (e.g., in the fingers) may become more difficult to bend, while tightened skin on the face may make the mouth smaller.

In systemic scleroderma, excess collagen may be deposited not only near the skin but also in or near the kidneys, lungs, heart, blood vessels and gastrointestinal tract. The collagen deposits may scar tissue in these areas, causing improper functioning of these organs. Complications ranging from difficulty swallowing or irregular heartbeat to kidney failure may result.

Types of Scleroderma

Depending on the affected body area and the pattern of the disease, scleroderma can be divided into several types and subtypes. The classification system may vary but in North America and the UK, scleroderma is usually divided into two main types, with each having several subtypes, as follows:

Localized scleroderma affects the skin and sometimes the tissue (incl. muscle) below it. It is, therefore, a kind of skin disease which does not progress to any other systems. There are two subtypes of localized scleroderma:

  • Morphea often develops as hard, oval-shaped patches of skin on the chest, stomach and back but it may also appear on the face, arms or legs. These patches are white or ivory with purple or violet-colored rings and range in size between 1 and 30 centimeters (1/2 inch and 12 inches) in diameter.
  • Linear scleroderma usually develops as hard lines or streaks of thickened skin, typically on the arms, legs or forehead.

Systemic or generalized scleroderma, sometimes also called systemic sclerosis, can affect several areas of the body. Systemic scleroderma often starts with the skin but later involves the lungs, kidneys, blood vessels, intestines or other internal organs. There are two subtypes of systemic scleroderma:

  • Limited scleroderma typically develops gradually, starting with the skin and may later spread to internal organs. It commonly affects the fingers, hands, lower arms, face, feet and legs.
  • Diffuse scleroderma, on the other hand, develops quickly with a rapid hardening of the skin, often in several areas of the body. Diffuse systemic scleroderma is often symmetrical, so that if the upper right arm is affected, the upper left arm will also be affected. Patients with this disorder may face the most serious complications when systems other than the skin are involved.

Some experts also identify a subtype called sine scleroderma, in which only the internal organs are affected whereas the skin is not.

Causes and Risk Factors for Scleroderma

Excess production of collagen is the main characteristic of scleroderma, but the reason for this overproduction is not well understood. Scleroderma is considered an autoimmune disorder, in which collagen is produced when it is not needed and builds up under the skin and in or near body organs.

This disorder is estimated to affect about 0.1% of the population. Women are far more likely to be affected than men (about 3-4 times). In some women, scleroderma may also occur after pregnancy as a result of microchimerism. Most people develop scleroderma between the ages of 30 to 50 but children or young adults may also be affected. Scleroderma tends to occur more frequently in certain populations. For example, localized scleroderma is more common among people of European descent, while systemic scleroderma is more common among people with African ancestry.

Environmental exposure to certain chemicals is another risk factor. Some outbreaks of scleroderma have occurred among miners exposed to silica dust and polyvinyl chloride. Other people have developed scleroderma as a result of contamination of food with certain toxins. However, many individuals have regular exposure to such chemicals and never develop scleroderma.

Not all people with a given risk factor will develop scleroderma, and not all patients with this condition necessarily had any risk factors. Scientists believe that a combination of a risk factor and a triggering event, such as certain viral infection, may initiate scleroderma.

Symptoms of Scleroderma

Symptoms of scleroderma may vary, depending on the extent of involvement in the affected areas. Also, many symptoms develop gradually and may not appear simultaneously.

Localized scleroderma affects only the skin and underlying tissue and muscles. Symptoms usually include inflammation and swelling of the skin, followed by hardening. Swelling and hardening of the skin on the face may make it difficult for the patient to open the mouth. Localized morphea scleroderma forms oval, thick skin patches that may be white and reddish in the center with a violet border. These plaques, which form on the arms, face and legs, sweat little and have little hair growth. They range in size from 1 to 30 centimeters (or 1/2 of an inch to 12 inches). In case of localized linear scleroderma, these plaques form in a characteristic line of abnormally colored, thickened skin on the arm, leg or face. When skin over joints is affected, the mobility of the joint may be compromised if the skin gradually thickens and scars down.

Systemic scleroderma has symptoms that affect both the skin and internal organs. One group of symptoms seen in this type of scleroderma is called CREST syndrome, an acronym for the first letters of each symptom:

  • Calcinosis. Calcium deposits form in the connective tissue on the fingers, hands, face, trunk and above the knees and elbows. They may break through the skin as painful ulcers.
  • Raynaud’s phenomenon. The small blood vessels in the fingers and hands react to cold or stress by constricting and turning white and then blue. Once the blood returns extremities turn white. Tissue in the fingers may be scarred or develop ulcers or even gangrene.
  • Esophageal dysfunction. Inflammation of the esophagus, swallowing problems or heartburn may occur as a result of problems in the esophagus when its muscles do not function properly.
  • Sclerodactyly. Collagen deposits lead to hardening and tightening of the skin on the fingers. Affected skin may look dark and shiny and lose hair. It may become difficult to bend the fingers.
  • Telangiectasias. Red, painless spots on the hands and face caused by swollen blood vessels.

Patients with diffuse systemic scleroderma can also experience some of the symptoms of CREST syndrome, mostly Raynaud’s phenomenon and skin thickening which often occurs symmetrically. Other characteristic signs of diffuse systemic scleroderma include loss of appetite and weight loss, fatigue, joint swelling and pain, difficulty swallowing, digestive problems, coughing or shortness of breath, irregular heartbeat and Sjögren syndrome (dry eyes and mouth).

Diagnosing Scleroderma

Since many of the symptoms of scleroderma are also characteristic of other illnesses, such as lupus or rheumatoid arthritis, and no laboratory test provides a definitive answer, it may be difficult to diagnose this condition. Furthermore, the slow onset of the systemic limited form of the disorder may be confused with other conditions.

The doctor will examine any areas of the skin affected by unusual patches, colorings or lesions and may test the patient’s arms and legs for their range of motion and joint tenderness. Changes in texture and thickening of skin, bumps from calcium deposits or the appearance of blood vessels may indicate a form of scleroderma.

The only method of diagnosing scleroderma is a diagnosis of exclusion, which serves to rule out other conditions. The necessary tests may include blood and urine tests, biopsy, imaging tests (e.g., X-rays or barium X-ray, CAT scan, echocardiogram, pulmonary function test, etc.). A combination of findings from the physical exam and test results may provide enough information to diagnose the condition. However, since symptoms of most forms of scleroderma appear slowly and individually and some may disappear without treatment, definitive diagnosis may take some time.

Treatment of Scleroderma

Although there is no ultimate cure for scleroderma, certain treatments may help relieve its symptoms or minimize systemic complications. Some symptoms may also improve or disappear without treatment. For example, the characteristic skin hardening may sometimes soften after a few years.

The systemic forms of scleroderma can affect various organs of the body. Therefore, treatment will be provided by a team of doctors composed of several different specialists (primary care physician, dermatologist, rheumatologist, pulmonologist, nephrologist, gastroenterologist, etc.).

Over-the-counter moisturizing creams or prescription corticosteroid preparations may be used to treat the skin hardening and thickening of localized scleroderma. Using a humidifier for dry inside air and keeping the hands and feet warm in cold weather may also benefit the skin. Certain specific medications may be prescribed to help alleviate skin problems. For instance, skin ulcers caused by calcium deposits or constricted blood vessels may be treated with antibiotic ointments or nitroglycerin pastes.

Different other medications may be prescribed to treat both the symptoms of systemic scleroderma and some of the associated complications. Examples of the symptom areas and the medicines used to treat them may include:

  • Skin thickening. Anti-fibrotic agents, such as D-penicillamine, have been used to reduce skin thickening. However, D-penicillamine has numerous severe side effects and its effects on the process are unproven. Despite that this drug still is a popular treatment option prescribed by some doctors.
  • Raynaud’s phenomenon. Vasodilators may help prevent the cold reaction whereas calcium channel blockers and alpha receptor blockers may relax the blood vessels or block their constriction and thus improve blood flow.
  • Gastrointestinal symptoms. Certain stimulants may be prescribed to help regulate the muscle contractions throughout the gastrointestinal tract. Medications for constipation, diarrhea and heartburn may also help.
  • Joint pain and inflammation. Nonsteroidal anti-inflammatory drugs (e.g., ibuprofen) and corticosteroids (e.g., prednisone) may be used to treat inflammation and joint pain. However, there is also a risk of side effects associated with these drugs. For example, some corticosteroids may adversely affect the kidneys, which would aggravate problems for some patients with systemic scleroderma.
  • Lung problems. Systemic scleroderma complications in the lungs involve scarring (fibrosis) and hypertension of the pulmonary arteries. Immunosuppressant drugs (e.g., cyclophosphamide, mycophenolate mofetil or antithymocyte globulin) may be used to treat fibrosis, but suppression of immune response may cause numerous other issues. High blood pressure medications may help relieve pulmonary artery hypertension.
  • Kidney problems. Medications that treat hypertension and block blood vessel constriction may minimize kidney problems. For example, angiotensin-converting enzyme inhibitors help reverse constriction of arteries and may also help with Raynaud’s disease.

In very rare cases, surgery may be required to repair some of the damage caused by systemic scleroderma (e.g., surgical removal of calcium deposits under the skin). Sympathectomy is a type of surgery that may be used to prevent spasms in the blood vessels and to improve blood flow to parts of the body.

Patients with scleroderma should limit exposure to cold and stress and should not smoke. Smoking constricts the blood vessels and may worsen Raynaud’s symptoms. Scleroderma patients may benefit from exercise because physical activity improves blood circulation and relieves stiffness. In addition, range of motion exercises may help maintain flexibility in the skin and joints.

The latest therapy for the skin problems associated with local scleroderma that is under investigation involves the use of ultraviolet radiation. Preliminary reports show that UV phototherapy improves skin elasticity and may, in some cases, completely clear up symptoms of the disease.

Preventing Scleroderma

There is no guaranteed way to prevent scleroderma. However, people are advised to avoid excessive occupational exposure to chemical agents and toxins known to trigger scleroderma (e.g., silica, PVC, etc.).

Where to Find More Information and Help: Scleroderma Foundation