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General Information About Scleroderma

Scleroderma Week

What is scleroderma?

Scleroderma, or systemic sclerosis, is a chronic connective tissue disease generally classified as one of the autoimmune rheumatic diseases.

The word “scleroderma” comes from two Greek words: “sclero” meaning hard, and “derma” meaning skin. Hardening of the skin is one of the most visible manifestations of the disease. The disease has been called “progressive systemic sclerosis,” but the use of that term has been discouraged since it has been found that scleroderma is not necessarily progressive. The disease varies from patient-to-patient.

What scleroderma is not

Scleroderma is not contagious, infectious, cancerous or malignant.

How serious is scleroderma?

Any chronic disease can be serious. The symptoms of scleroderma vary greatly for each person, and the effects of scleroderma can range from very mild to life threatening. The seriousness will depend on the parts of the body, which are affected, and the extent to which they are affected. A mild case can become more serious if not properly treated. Prompt and proper diagnosis and treatment by qualified physicians may minimize the symptoms of scleroderma and lessen the chance for irreversible damage.

How is scleroderma diagnosed?

The diagnostic process may require consultation with rheumatologists (arthritis specialists), and/or dermatologists (skin specialists) and require blood studies and numerous other specialized tests depending upon which organs are affected.

Who develops scleroderma, and when?

It’s estimated that about 300,000 Americans have scleroderma. About one third of those people have the systemic form of scleroderma. Since scleroderma presents with symptoms similar to other autoimmune diseases, diagnosis is difficult. There may be many misdiagnosed or undiagnosed cases.

Localized scleroderma is more common in children, whereas systemic scleroderma is more common in adults. Overall, female patients outnumber male patients about 4-to-1. Factors other than a person’s gender, such as race and ethnic background, may influence the risk of getting scleroderma, the age of onset, and the pattern or severity of internal organ involvement. The reasons for this are not clear. Although scleroderma is not directly inherited, some scientists feel there is a slight predisposition to it in families with a history of rheumatic diseases.

However, scleroderma can develop in every age group from infants to the elderly, but its onset is most frequent between the ages of 25 to 55. When doctors say "usually" or "for the most part," the reader should understand that variations frequently occur. Many patients get alarmed when they read medical information that seems to contradict their own experiences, and conclude that what has happened to them is not supposed to happen. There are many exceptions to the rules in scleroderma, perhaps more so than in other diseases. Each case is different, and information should be discussed with your own doctor.

What causes scleroderma?

The exact cause or causes of scleroderma are still unknown, but scientists and medical researchers are working hard to make those determinations. It is known that scleroderma involves an overproduction of collagen.

Is scleroderma genetic?

Most patients do not have any relatives with scleroderma and their children do not get scleroderma. Research indicates that there is a susceptibility gene, which raises the likelihood of getting scleroderma, but by itself does not cause the disease.

What is the treatment for scleroderma?

Currently, there is no cure for scleroderma, but there are many treatments available to help particular symptoms. For instance, heartburn can be controlled by medications called proton pump inhibitors PPIs) or medicine to improve the motion of the bowel. Some treatments are directed at decreasing the activity of the immune system. Some people with mild disease may not need medication at all and occasionally people can go off treatment when their scleroderma is no longer active. Because there is so much variation from one person to another, there is great variation in the treatments prescribed.

Types of Scleroderma

There are two major classifications of scleroderma: localized scleroderma and systemic sclerosis (SSc). Other forms or sub-classifications, each with its own characteristics and prognosis, may be identified through future research.


Localized Scleroderma The changes, which occur in localized scleroderma, are usually found in only a few places on the skin or muscles, and rarely spread elsewhere. Generally, localized scleroderma is relatively mild. The internal organs are usually not affected, and persons with localized scleroderma rarely develop systemic scleroderma. Some laboratory abnormalities commonly seen in systemic scleroderma are frequently absent in the localized form.

Morphea is a form of localized scleroderma characterized by waxy patches on the skin of varying sizes, shapes and color. The skin under the patches may thicken. The patches may enlarge or shrink, and often may disappear spontaneously. Morphea usually appears between the ages of 20 and 50, but is often seen in young children.

Linear scleroderma is a form of localized scleroderma which frequently starts as a streak or line of hardened, waxy skin on an arm or leg or on the forehead. Sometimes it forms a long crease on the head or neck, referred to as en coup de sabre because it resembles a saber or sword wound. Linear scleroderma tends to involve deeper layers of the skin as well as the surface layers, and sometimes affects the motion of the joints, which lie underneath. Linear scleroderma usually develops in childhood. In children, the growth of involved limbs may be affected.

Systemic scleroderma (systemic sclerosis) The changes occurring in systemic scleroderma may affect the connective tissue in many parts of the body. Systemic scleroderma can involve the skin, esophagus, gastrointestinal tract (stomach and bowels), lungs, kidneys, heart and other internal organs. It can also affect blood vessels, muscles and joints. The tissues of involved organs become hard and fibrous, causing them to function less efficiently. The term systemic sclerosis indicates that “sclerosis” (hardening) may occur in the internal systems of the body. There are two major recognized patterns that the illness can take - diffuse or limited disease. In diffuse scleroderma, skin thickening occurs more rapidly and involves more skin areas than in limited disease. In addition, people with diffuse scleroderma have a higher risk of developing “sclerosis” or fibrous hardening of the internal organs.

About 50 percent of patients have a slower and more benign illness called limited scleroderma. In limited scleroderma, skin thickening is less widespread, typically confined to the fingers, hands and face, and develops slowly over years. Although internal problems occur, they are less frequent and tend to be less severe than in diffuse scleroderma, and are usually delayed in onset for several years. However, persons with limited scleroderma, and occasionally those with diffuse scleroderma, can develop pulmonary hypertension, a condition in which the lung’s blood vessels become narrow, leading to impaired blood flow through the lungs resulting in shortness of breath.

Limited scleroderma is sometimes called CREST syndrome. CREST stands for the initial letters of five common features:

  • Calcinosis
  • Raynaud Phenomenon
  • Esophageal dysfunction
  • Sclerodactyly
  • Telangiectasia

To further complicate the terminology, some people with diffuse disease will go on to develop calcinosis and telangiectasias so that they also have the features of CREST.

Although most patients can be classified as having diffuse or limited disease, different people may have different symptoms and different combination of symptoms of the illness.

Four Facts About Scleroderma

  1. Approximately 300,000 Americans are diagnosed with scleroderma.

  2. Approximately three to four times more women develop scleroderma. It affects every age group, but the onset is most frequent between 25 and 55.

  3. There are no known causes or treatments for scleroderma.

  4. Lung disease is a major cause of scleroderma-related deaths.

Scleroderma, or Systemic Sclerosis, is a multi-organ disease consisting of progressive fibrosis. It affects virtually every organ in the body, especially the skin (from which its name derives), vascular system and lungs.  Scleroderma is a progressive disease of unknown cause that often leads to death, although the rate of progression varies enormously between individuals. Some can survive for multiple decades with the disease.  At one time, death was most often related to “renal crisis” caused by uncontrolled systemic (blood pumped by the left heart) high blood pressure that damaged the kidneys and caused them to fail.  But now that we have effective anti-hypertensives, lung-related complications are the most common cause for death.  These lung complications include pulmonary fibrosis, a scarring process that makes the lungs stiff and interferes with the ability to oxygenate, pulmonary hypertension (high blood pressure in the lungs) that doesn’t respond to the usual agents used to treat systemic high blood pressure, and chronic aspiration related to the esophageal problems associated with scleroderma.

Despite decades of research, there are no known treatments that effectively slow the progression of the underlying Scleroderma disease process, but there are effective treatments for many of the complications. Current treatments of complications that are effective include the antihypertensives already mentioned above, those to ameliorate Raynaud’s phenomenon that cuts off blood supply to the fingers and drugs to treat pulmonary hypertension.  Unfortunately, these treatments target only a few of the complications associated with the disease, so it still progresses and patients still suffer the consequences of the many other complications.

Fortunately, the lack of understating of the disease process and if effective therapies has stimulate a great deal of research directed at the disease. Examples include understanding the genetics of the disease, ways to slow or stop the progression of fibrosis, approaches to interrupt the inflammatory cascade, trying to understand the vascular pathology and adverse effects on heart function, identification of biomarkers that can predict the course of the disease and ways to improve patients’ quality of life – how they feel and function. Many ATS members are involved in these research efforts. Specific examples include Dean Sheppard at the University of San Francisco who is studying how blood vessel markers called integrins can be blocked to interrupt fibrosis,  Vibha Lama at the University of Michigan studying how mesenchymal stem cells contribute to the pulmonary fibrosis, Hap Farber at Boston University seeking better ways to treat the pulmonary hypertension and Paul Hassoun at Johns Hopkins examining the mechanisms responsible for right ventricular (the side of the heart pumping blood through the lungs) dysfunction.

Through its collaboration with its Public Advisory Roundtable member, the Scleroderma Foundation, ATS has been helping to direct funds to many of these researchers. In addition to the Scleroderma Foundation, the National Institutes of health has been supporting research initiatives. The aim is to support programs consisting of teams of researchers representing multiple disciplines consisting of those pursuing basic research through to those pursuing clinical applied research.  The idea is to have these researchers communicating on a regular basis so as stimulate the generation of newer and better ideas and leading to more rapid translation of basic advances into clinical practice. This is an exciting time in scleroderma research because of the many scientists from many disciplines working hard on many facets of the disease, seeking to better understand the cause as well as to identify better treatments and, ultimately, even a cure.