Scleroderma

Derived from the Greek words “sklerosis,” meaning hardness, and “derma,” meaning skin, scleroderma literally means “hard skin.” Although 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.

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 or pain in the muscles, joints, or fibrous tissue. A connective tissue disease is one that affects tissues such as skin, tendons, and cartilage.

Scleroderma is also believed to be an autoimmune disease. In autoimmune diseases, the body's immune system turns against and damages its own tissues.

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:

  • Localized forms of scleroderma are more common in people of European descent than in African Americans. Morphea usually appears between the ages of 20 and 40, and linear scleroderma usually occurs in children or teenagers.
  • Systemic scleroderma, whether limited or diffuse, typically occurs in people from 30 to 50 years old. It affects more women of African American than European descent.

Although scientists don’t know exactly what causes scleroderma, they are certain that people cannot catch it from or transmit it to others. Scientists suspect that scleroderma comes from several factors that may include:

Abnormal immune or inflammatory activity: Like many other rheumatic disorders, scleroderma is believed to be an autoimmune disease. An autoimmune disease is one in which the immune system, for unknown reasons, turns against one’s own body.

Genetic makeup: Although genes seem to put certain people at risk for scleroderma and play a role in its course, the disease is not passed from parent to child like some genetic diseases.

Environmental triggers: Researchers suspect that exposure to some environmental factors may trigger scleroderma.

Hormones: Women develop most types of scleroderma more often than men. Scientists suspect that hormonal differences between women and men might play a part in the disease.

Depending on your particular symptoms, a diagnosis of scleroderma may be made by:

  • general internist.
  • dermatologist, who specializes in treating diseases of the skin, hair, and nails.
  • An orthopaedist, who treats bone and joint disorders.
  • pulmonologist, who is trained to treat lung problems.
  • rheumatologist, who specializes in treating musculoskeletal disorders and rheumatic diseases.

A diagnosis of scleroderma is based largely on the medical history and findings from the physical exam, questions about what has happened to you over time, and about any symptoms you may be experiencing. Once your doctor has taken a thorough medical history, he or she will perform a physical exam, which can help the doctor diagnose a certain form of scleroderma.

Finally, your doctor may order lab tests to help confirm a suspected diagnosis. The presence of certain antibodies is common in people with scleroderma, but having these antibodies does not confirm the presence of the disease.

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 also 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.

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 doctor specializing in treatment of musculoskeletal disorders and rheumatic diseases). Your rheumatologist may refer you to other specialists, depending on the specific problems you are having. For example, you may see 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 such as 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 doctor. Others are things you can do on your own.

Stiff, painful joints: In diffuse systemic sclerosis, hand joints can stiffen because of hardened skin around the joints or inflammation within them. Other joints can also become stiff and swollen.

  • Stretching exercises under the direction of a physical or occupational therapist are extremely important to prevent loss of joint motion.
  • Exercise regularly. Ask your doctor or physical therapist about an exercise plan that will help you increase and maintain range of motion in affected joints.
  • Use medication as recommended by your doctor to help relieve joint or muscle pain.2 If pain is severe, speak to a rheumatologist about the possibility of prescription-strength drugs to ease pain and inflammation.
  • Learn to do things in a new way. A physical or occupational therapist can help you learn to perform daily tasks, such as lifting and carrying objects or opening doors, in ways that will put less stress on tender joints.