Scleroderma

Scleroderma is a rare, long-term (chronic) disease that causes abnormal growth of the skin and other connective tissues. Although there is no cure, treatment can help manage symptoms and prevent complications. At Atrium Health Floyd and Harbin Clinic, rheumatologists, dermatologists and other specialists work together to provide care so you can live an active life.

What is scleroderma?

The term scleroderma comes from the Greek words for hard (“skleros”) and skin (“derma”). For some people, hard, tight skin is the extent of the disease. For others, the problem goes deeper, affecting blood vessels and internal organs.

Scleroderma is an autoimmune disease that causes inflammation and fibrosis (thickening) of connective tissues. Autoimmune diseases occur when your immune system attacks and damages your own tissues. Connective tissue links other tissues together. It also provides support and protection for the skin and internal organs.

Although scleroderma is much more common in women, the disease also occurs in men and children.

Causes of scleroderma

Scleroderma develops due to an excess production of collagen, a fiber-like protein found in connective tissue. Doctors don’t know exactly what causes this overproduction, but they suspect several factors may play a role, including:

• Abnormal immune activity: A leading theory is that an overactive immune system damages specific cells inside the blood vessels in connective tissues, triggering collagen production.
• Environmental triggers: Exposure to some environmental factors may trigger scleroderma.
• Genetic makeup: Certain genes may increase your risk of scleroderma and affect its course. However, the disease is not passed from parent to child like some genetic diseases.
• Hormones: Because scleroderma is more common in women, doctors think that hormonal differences might play a part in the disease.

Scleroderma types

There are two main types of scleroderma:

• Localized scleroderma usually affects limited areas of skin and occurs at younger ages. Skin changes in localized scleroderma can develop in patches (morphea) or as streaks (linear scleroderma).
• Systemic sclerosis affects larger areas of skin and organs such as the heart, lungs, digestive tract and kidneys. It typically occurs in people aged 30 to 50 and is more common in Black people. Systemic sclerosis is further classified as limited or diffuse based on how much skin is involved.

Scleroderma symptoms

Symptoms vary widely depending on the scleroderma type and area affected. Some common areas and symptoms include:

• Skin: Thick, hard skin is a frequent symptom. Sores, lumps, dryness, itching and changes in color can also occur.
• Digestive tract: Scleroderma can affect your digestive tract function, causing swallowing problems, diarrhea or constipation.
• Hands: The skin on your hands may turn white and feel tingly or numb in response to cold or stress. This is a sign of Reynaud phenomenon, which may occur in systemic sclerosis.
• Joints: Joint inflammation can cause pain and stiffness. You may also notice swelling in your hands.
• Kidneys: Connective tissue changes can affect kidney function. An increase in blood pressure is an early sign of kidney involvement.
• Lungs: If you have scar tissue in your lungs, you may feel short of breath or develop a cough. This condition is called pulmonary fibrosis and can be life-threatening.

Scleroderma diagnosis

A scleroderma diagnosis is based largely on your medical history, physical exam and symptoms. Your doctor may:

• Order lab tests to confirm a suspected diagnosis. For example, a blood test may reveal specific antibodies that are common in people with scleroderma
• Perform a skin biopsy, which involves collecting a small sample of skin for laboratory examination
• Request other tests to determine how well your organs are functioning

Diagnosing scleroderma is easiest when a person has typical symptoms and rapid skin thickening. For those with slower disease progression, it may take longer to rule out other diseases and confirm a diagnosis.

Scleroderma treatment

Currently, there are no treatments to stop the overproduction of collagen. Care focuses on relieving symptoms and limiting damage to organs and tissues.

A rheumatologist usually manages scleroderma. These doctors specialize in caring for musculoskeletal disorders and autoimmune diseases. Your rheumatologist may refer you to other specialists, depending on the organs affected. For example, you may see a:

• Cardiologist for heart complications
• Dentist for complications in the mouth
• Dermatologist for skin symptoms
• Gastroenterologist for digestive tract problems
• Nephrologist for kidney complications
• Pulmonologist for lung involvement

Other health care professionals, such as physical therapists, occupational therapists, speech therapists, psychologists and social workers may also assist with your care.