WHAT IS SCLERODERMA ?

The word scleroderma means "hard skin." The full medical name of this condition is progressive systemic sclerosis, sometimes shortened to just systemic sclerosis, as not all forms of scleroderma are progressive, i.e. worsen over time.

The most characteristic feature is the hidebound fibrosis, or thickening of the skin. Less visible but of major importance are the lesions that occur in small blood vessels (vascular lesions), which may involve major organs.

The natural history, or course of scleroderma, varies widely. Forms of the disease that affect primarily the skin without major organ involvement, have better long-term outlook. Those forms of scleroderma that involve major organs, such as the heart and kidney, are potentially more severe with possibly less desirable long-term outcomes.

DIAGNOSIS
The taking of a history combined with a physical examination will be the first step in diagnosis. Laboratory tests may be done to clarify certain areas but there is no single laboratory that diagnoses scleroderma, i.e. the typical patient with scleroderma may have remarkably normal results on routine lab tests.

If skin changes are already present the diagnosis may be simple and routine. In other cases where scleroderma is suspected, your physician may wish to do a skin biopsy where a small piece of skin is removed to be analyzed in the laboratory.

Depending upon the nature of the symptoms there are a wide variety of other tests possible. These will be determined by the suspected organ involved. For example, suspicion of difficulties with swallowing may require a special X-ray of the esophagus. Heart or lung involvement may require special tests for those organs.

WHAT HAPPENS
The body produces too much of a protein called collagen. What triggers this process is unknown. It does however result in excess collagen being deposited in the skin and other body organs. As the normal tissue is replaced by the collagen, the normal functioning of the tissue or organ is compromised.

The joints are not always the primary area of involvement in scleroderma, but arthritis can occur as part of the disease. The skin, when involved with thickening and tightness, does lead to stiffness and reduced motion of the joints in the affected areas.

RISK FACTORS
The condition has a world wide distribution, is relatively rare, and the cause is unknown. It affects women three to five times more frequently than men. Its incidence occurs increasingly with age but its onset is most commonly between the ages of 30 and 50. It is occasionally seen in children and the elderly. It does not run in families though some familial cases have been reported. Work has been done to see if there are certain tissue types or hereditary factors that may contribute to the development of this condition, but there has been little evidence to this point to support this.

SIGNS & SYMPTOMS

  • Heart and Lung Problems:
    The left pumping chamber of the heart may be involved in scleroderma. Problems with the heart can include slowing of the heart, or changes in its rhythmic pattern, or heart failure. If the lungs are involved, there is a loss of the ability of the lungs to function efficiently. Symptoms of heart or lung involvement may include shortness of breath, a cough, and chest pain or palpitations.
     
  • Kidney Problems:
    Small blood vessels within the kidneys can be involved leading to lack of blood flow. This can produce high blood pressure and kidney failure and is a serious problem requiring urgent treatment. Symptoms could include severe headache, shortness of breath, visual disturbances, chest pain or mental confusion.
     
  • Sjögren's Syndrome:
    In Sjogren's Syndrome the organs that produce lubricating fluid such as the salivary glands in the mouth, the lacrimal glands (producing tears) in the eye, or the cells in the vagina, may fail leading to abnormally dry areas. Dry eyes, mouth or vagina may indicate Sjögren's Syndrome which may accompany scleroderma.

PATTERNS AND TYPES OF SCLERODERMA
There are two forms of scleroderma: localized and generalized.

1. Localized Scleroderma
Localized Scleroderma chiefly affects the skin but spares the internal organs. There may be involvement of muscles and joints. It takes one of two forms:

  • Morphea
    Hard, round or oval patches develop on the skin. The patches tend to be white with a reddish area around them. They may occur on the trunk, on the face, arms, legs or other parts of the body.
     
  • Linear
    A line of thickened skin occurs in areas such as the face (forehead often), arms or legs. This line of hard bound skin extends deep down into the skin, bones and muscles. This form usually occurs in young people and may affect growth of the affected part.

2. Generalized Scleroderma
Generalized scleroderma occurs in two different forms:

  • Diffuse Scleroderma
    Usually there is widespread thickening of the skin of the arms, legs, face and trunk (chest and abdomen). The skin changes can occur quite rapidly. In addition to the skin changes, other organs are frequently involved: lungs, kidneys, heart, blood vessels, gastro-intestinal tract (including bowels and esophagus), and the joints. This disease can progress slowly or rapidly but varies widely from individual to individual.
     
  • Limited Scleroderma (CREST Syndrome)
    Skin hardening is less extensive than in the diffuse form of the disease and does not involve the trunk. There is less frequent severe involvement of the lungs, heart and kidneys. Limited cutaneous scleroderma is also known as CREST. "Crest" stands for a number of different symptoms which can also occur in diffuse scleroderma.

CREST:
Calcinosis
These are small white chalky lumps made up of calcium that form under the skin. They often occur around the fingers but can occur anywhere in the body. They are not caused by too much calcium in the diet. They can rupture through the skin causing the oozing of a chalky white material.

Raynaud's Phenomenon
Raynaud's Phenomenon is caused by a spasm or narrowing of the blood vessels. Cold exposure or emotional stress can trigger such spasms. This leads to a cycle where the fingers first blanch (go white), then turn very blue, and then return to normal colour. Although it usually occurs in the fingers, the toes can also be involved. Smoking aggravates this condition.

Esophageal Dysfunction
Food is normally carried down the esophagus from the mouth to the stomach by a rhythmic muscle action that moves it along. The esophagus becomes less mobile, the muscle action diminishes, and over time, the muscle may be replaced by scar tissue, causing it to be an open pipe more than a dynamic muscular tube. This can result in difficulty swallowing. Heartburn occurs as acid from the stomach is able to flood upwards into the esophagus where it can cause burning. There may be a feeling of bloating when eating and a desire to vomit after eating.

Sclerodactyly
This means "hardness of the digits." The skin of the fingers is dry, coarse textured or "woody" feeling. Hair vanishes, creases disappear, and the whole area looks shiny. There is accompanying difficulty in moving the fingers. The fingers tend to flex or tighten into a bent position.

Telangactasia
These are small red spots that appear on the surface of the skin and are due to enlarged (damaged) small blood vessels. They commonly occur on the fingers, palms, face, lips and tongue.

A sixth, but less common, symptom is also associated with CREST:

Bowel Dysfunction
Replacement of the muscle, the intestine, results in changes similar to that seen in the esophagus. This can lead to the inability to absorb nutrients from food, an overgrowth of bacteria in the bowel, weight loss, and diarrhea or constipation. 

TREATMENT
As a primary aspect of treatment, you should discuss the nature and form of scleroderma you have with your physician.

1. Medication
No single medication or combination of medications have proven to be completely effective in scleroderma. These agents are used to try and control the disease and minimize symptoms.

  • Aspirin CHARCHAR (ASA) may be used in high doses to treat joint inflammation and pain. NSAIDs (non-steroidal anti-inflammatory drugs) are a group of aspirin-like medications that are also used to treat inflammation. Corticosteroids may be used to control inflammation as well. This could include treatment for pericarditis (inflammation around the heart) or polymyositis (inflammation of muscles).
  • Penicillamine (CuprimineCHARCHAR or DepenCHARCHAR) and methotrexate have been used to try to stop or slow down the over-production and deposition of collagen in the body.
  • A variety of other agents may be used depending upon the particular organs involved. Medication that has the effect of controlling small blood vessel spasm are used in individuals with marked Raynaud's Phenomenon where the circulation in the hands and feet has been compromised. In cases where kidney involvement has lead to high blood pressure, there are medications that need to be used to deal with this potentially serious problem. Medications are available to reduce acid production in the stomach and control heartburn. Other drugs may improve motility of the bowel.

2.Supportive Measures

  • Skin and Circulation
    Skin involvement may require special attention. The use of topical creams or lotions on the skin for excess dryness may be required. It may also be necessary for the individual to limit the frequency of bathing to preserve the natural skin oils also. Another goal of skin protection is to maintain good circulation. Dressing warmly and avoiding cold exposure is important for those sensitive to cold. Simply keeping the body part warm aids blood flow through the area. Humidifiers can be used to limit the effects of dry skin. Do not use strong soaps or other chemicals that have a drying effect on the skin. If you have Raynaud's Phenomena, stopping smoking is mandatory.
    Where circulation is a marked problem, surgical sympathectomy is sometimes done. This procedure divides nerves in the spine that have the effect of causing spasm in the blood vessels.
     
  • Calcinosis
    Protecting areas of calcification from pressure and abrasion is necessary. These hardened areas can lead to skin breakdown with the potential for infection. Keep open areas clean. Aggressive treatment of infections, should they occur, is important. Surgical removal of calcium deposits may be done.
     
  • Swallowing and Regurgitation
    Careful and adequate chewing of food can minimize swallowing difficulty. Drinking fluids with food will assist if the mouth is dry. There are some medications that can assist in stimulating the muscle action in milder cases. Not lying down after meals and raising the head of the bed will minimize acid coming back up into the esophagus. Eating smaller meals more frequently will also help. If the esophagus has become narrowed down, it is possible to have it stretched periodically.
     
  • Sjögrens Syndrome
    There are a variety of lubricants available to overcome the problems that the lack of secretions bring. This includes artificial tears that are used as drops in the eyes. There are mouth washes and sprays available for routine use or for assistance with eating.
    Where dryness of the mouth is pronounced, regular dental checks are desirable as there may be less flushing of the teeth than is usual. This can lead to increased dental caries (tooth decay).


3. Exercise
Regular exercise benefits overall health and well being. Exercise is particularly beneficial for those diagnosed with scleroderma because it maintains good circulation, and muscle strength and promotes flexibility and joint range of motion.

4. Stress Management
Reducing the major stressors in your life is desirable. Getting sufficient rest is important on a regular basis. Alter those factors in your life, that you are able to, that are contributing undue stress. If you can make internal changes yourself that is good, but you may require the assistance of a health professional such as a social worker or counselor to help you identify these factors and work on them.

Stress management may be done either individually or as part of a group. It may be done by oneself or involve a spouse, friend, or family member.

Open honest communication is desirable with those around you. This includes family, health professionals, employers and others. Communicate openly with those you feel comfortable with.

COMMONLY ASKED QUESTIONS

Q. Is scleroderma inherited?
A. No, scleroderma is not inherited. Some people may be more susceptible but exposure to an appropriate agent in the environment is likely needed to be bring on the disease.

Q. Why do patients with scleroderma get heartburn and difficulty swallowing?
A. The valve (sphincter) between the esophagus (gullet) and stomach becomes lax. This allows acid from the stomach to flow backwards up the esophagus causing the heartburn. Abnormal movement (contraction) of the esophagus also occurs as well so that that acid is not cleared properly. This may also result in difficulty swallowing.

Q. What is Raynaud's Phenomenon?
A. Raynaud's phenomenon occurs when the blood vessels in the fingers and toes contract (close up) excessively following exposure to cold. The resulting reduction in blood flow causes the fingers (and toes) to become blue or white in colour. When severe there is pain and numbness as well. Raynaud's phenomenon occurs with many other medical problems apart from scleroderma.

Q. What do all of these medical terms mean?
A. Understanding some of the terms and language used by doctors can be difficult. Please see our Glossary for some of the most commonly used terms.