Scleroderma

Scleroderma

This information is for people who have scleroderma, as well as for their family members, friends, and others who want to find out more about the disease. This booklet describes the different forms of scleroderma and provides information on their symptoms, diagnosis, and treatment, including what patients can do to help manage their disease and the problems associated with it. It also highlights current research efforts into the understanding and treatment of scleroderma, many of which are supported by the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) and other components of the National Institutes of Health (NIH). If you have further questions after reading this booklet, you may wish to discuss them with your doctor.

What Is Scleroderma?

Derived from the Greek words “sklerosis,” meaning hardness, and “derma,” meaning skin, scleroderma literally means hard skin. Though it is often referred to as if it were a single disease, scleroderma is really a symptom of a group of diseases that involve the abnormal growth of connective tissue, which supports the skin and internal organs. It is sometimes used, therefore, as an umbrella term for these disorders. In some forms of scleroderma, hard, tight skin is the extent of this abnormal process. In other forms, however, the problem goes much deeper, affecting blood vessels and internal organs, such as the heart, lungs, and kidneys.

Scleroderma is called both a rheumatic (roo-MA-tik) disease and a connective tissue disease. The term rheumatic disease refers to a group of conditions characterized by inflammation and/or pain in the muscles, joints, or fibrous tissue. A connective tissue disease is one that affects the major substances in the skin, tendons, and bones.

Here we’ll discuss the forms of scleroderma and the problems with each of them as well as diagnosis and disease management. We’ll also take a look at what research is telling us about their possible causes and most effective treatments, and ways to help people with scleroderma live longer, healthier, and more productive lives.

What Are the Different Types of Scleroderma?

The group of diseases we call scleroderma falls into two main classes: localized scleroderma and systemic sclerosis. (Localized diseases affect only certain parts of the body; systemic diseases can affect the whole body.) Both groups include subgroups. (See chart.) Although there are different ways these groups and subgroups may be broken down or referred to (and your doctor may use different terms from what you see here), the following is a common way of classifying these diseases:

People with diffuse disease are often tired, lose appetite and weight, and have joint swelling and/or pain. Skin changes can cause the skin to swell, appear shiny, and feel tight and itchy.

The damage of diffuse scleroderma typically occurs over a few years. After the first 3 to 5 years, people with diffuse disease often enter a stable phase lasting for varying lengths of time. During this phase, skin thickness and appearance stay about the same. Damage to internal organs progresses little, if at all. Symptoms also subside: joint pain eases, fatigue lessens, and appetite returns.

Gradually, however, the skin starts to change again. Less collagen is made and the body seems to get rid of the excess collagen. This process, called “softening,” tends to occur in reverse order of the thickening process: the last areas thickened are the first to begin softening. Some patients’ skin returns to a somewhat normal state, while other patients are left with thin, fragile skin without hair or sweat glands. More serious damage to heart, lungs, or kidneys is unlikely to occur unless previous damage leads to more advanced deterioration.

People with diffuse scleroderma face the most serious long-term outlook if they develop severe kidney, lung, digestive, or heart problems. Fortunately, less than one-third of patients with diffuse disease develop these problems. Early diagnosis and continual and careful monitoring are important.

What Causes Scleroderma?

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:

Who Gets Scleroderma?

Although scleroderma is more common in women, the disease also occurs in men and children. It affects people of all races and ethnic groups. However, there are some patterns by disease type. For example:

Because scleroderma can be hard to diagnose and it overlaps with or resembles other diseases, scientists can only estimate how many cases there actually are. Estimates for the number of people in the United States with systemic sclerosis range from 40,000 to 165,000. By contrast, a survey that included all scleroderma-related disorders, including Raynaud’s phenomenon, suggested a number between 250,000 and 992,500.

For some people, scleroderma (particularly the localized forms) is fairly mild and resolves with time. But for others, living with the disease and its effects day to day has a significant impact on their quality of life.

How Can Scleroderma Affect My Life?

Having a chronic disease can affect almost every aspect of your life, from family relationships to holding a job. For people with scleroderma, there may be other concerns about appearance or even the ability to dress, bathe, or handle the most basic daily tasks. Here are some areas in which scleroderma could intrude.

How Is Scleroderma Diagnosed?

Depending on your particular symptoms, a diagnosis of scleroderma may be made by a general internist, a dermatologist (a doctor who specializes in treating diseases of the skin, hair, and nails), an orthopaedist (a doctor who treats bone and joint disorders), a pulmonologist (lung specialist), or a rheumatologist (a doctor specializing in treatment of rheumatic diseases). A diagnosis of scleroderma is based largely on the medical history and findings from the physical exam. To make a diagnosis, your doctor will ask you a lot of questions about what has happened to you over time and about any symptoms you may be experiencing. Are you having a problem with heartburn or swallowing? Are you often tired or achy? Do your hands turn white in response to anxiety or cold temperatures?

Once your doctor has taken a thorough medical history, he or she will perform a physical exam. Finding one or more of the following factors can help the doctor diagnose a certain form of scleroderma:

Finally, your doctor may order lab tests to help confirm a suspected diagnosis. At least two proteins, called antibodies, are commonly found in the blood of people with scleroderma:

Because not all people with scleroderma have these antibodies and because not all people with the antibodies have scleroderma, lab test results alone cannot confirm the diagnosis.

In some cases, your doctor may order a skin biopsy (the surgical removal of a small sample of skin for microscopic examination) to aid in or help confirm a diagnosis. However, skin biopsies, too, have their limitations: biopsy results cannot distinguish between localized and systemic disease, for example.

Diagnosing scleroderma is easiest when a person has typical symptoms and rapid skin thickening. In other cases, a diagnosis may take months, or even years, as the disease unfolds and reveals itself and as the doctor is able to rule out some other potential causes of the symptoms. In some cases, a diagnosis is never made, because the symptoms that prompted the visit to the doctor go away on their own.

What Other Conditions Can Look Like Scleroderma?

Symptoms similar to those seen in scleroderma can occur with a number of other diseases. Here are some of the most common scleroderma lookalikes:

At other times, symptoms resembling those of scleroderma can be the result of an unrelated disease or condition. For example:

An explanation of most of these other diseases is beyond the scope of this booklet (for brief definitions, see the glossary). What’s important to understand, however, is that scleroderma isn’t always easy to diagnose; it may take time for you and your doctor to establish a diagnosis. And while having a definite diagnosis may be helpful, knowing the precise form of your disease is not needed to receive proper treatment.

How Is Scleroderma Treated?

Because scleroderma can affect many different organs and organ systems, you may have several different doctors involved in your care. Typically, care will be managed by a rheumatologist, a specialist who treats people with diseases of the joints, bones, muscles, and immune system. Your rheumatologist may refer you to other specialists, depending on the specific problems you are having: for example, a dermatologist for the treatment of skin symptoms, a nephrologist for kidney complications, a cardiologist for heart complications, a gastroenterologist for problems of the digestive tract, and a pulmonary specialist for lung involvement.

In addition to doctors, professionals like nurse practitioners, physician assistants, physical or occupational therapists, psychologists, and social workers may play a role in your care. Dentists, orthodontists, and even speech therapists can treat oral complications that arise from thickening of tissues in and around the mouth and on the face.

Currently, there is no treatment that controls or stops the underlying problem–the overproduction of collagen–in all forms of scleroderma. Thus, treatment and management focus on relieving symptoms and limiting damage. Your treatment will depend on the particular problems you are having. Some treatments will be prescribed or given by your physician. Others are things you can do on your own.

Here are some of the potential problems that can occur in systemic scleroderma and the medical and nonmedical treatments for them. (These problems do not occur as a result or complication of localized scleroderma.)

[Note: This is not a complete listing of problems or their treatments. Different people experience different problems with scleroderma and not all treatments work equally well for all people. Work with your doctor to find the best treatment for your specific symptoms.]

Raynaud’s Phenomenon

More than 70 percent of people with scleroderma first notice this problem when their fingers turn cold or blue, typically in response to cold temperatures or emotional distress. Raynaud’s phenomenon, as the condition is called, may precede scleroderma by years. In many people, however, Raynaud’s phenomenon is unrelated to scleroderma, but may signal damage to the blood vessels supplying the hands arising from such conditions as occupational injuries (from using jackhammers, for example), trauma, excessive smoking, circulatory problems, and drug use or exposure to toxic substances. For some people, cold fingers (and toes) are the extent of the problem and are little more than a nuisance. For others, the condition can worsen and lead to puffy fingers, finger ulcers, and other complications that require aggressive treatment.