Department of Pediatrics

Scleroderma is a rare disease of the connective tissue. It can cause the tissue in skin, joints, and internal organs to thicken and stiffen. There are three major forms of the disease:

Localized scleroderma (also known as morphea)—usually affects only the skin in isolated parts of the body. This form is less serious.

Systemic scleroderma—affects widespread areas of skin and/or internal organs, most often the lungs. Certain categories of this form of scleroderma are more serious and can be fatal.

Overlap syndrome—patients may have features of scleroderma as well as features of other autoimmune syndromes

Overproduction of collagen and other connective tissue proteins is the main feature of scleroderma, but it is not clear what causes this overproduction. Malfunction of the immune system may contribute to excess collagen production. There is also evidence that scleroderma results from diffuse vascular abnormalities that may be related to this immune dysfunction.

A risk factor is something that increases your chance of getting a disease or condition. Your risk of scleroderma increases if:

• You are female
• You are 30 to 50 years old
• You have certain occupational exposures (such as polyvinyl chloride or silica dust)
• You have a genetic predisposition

Localized scleroderma—Symptoms are usually restricted to the skin and this disorder does not progress to involve internal organs. The skin lesions may completely reverse themselves in a few months or a few years. In some cases, they lead to permanent disfigurement. Symptoms include:

• Hard patches on the skin, most often on the face or trunk (morphea)
• Lines of thickened skin that can extend to underlying muscles and bones (linear scleroderma or linear morphea)

Systemic scleroderma—This form of the disease is typically categorized as either limited or diffuse disease. Many cases of limited disease begin gradually with Raynaud's phenomenon (swelling, tingling, numbness, blue and white color, and pain of fingers and toes brought on by cold or emotional distress) and progress over the years to thickened skin.

Raynaud's Phenomenon Symptom  

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Diffuse scleroderma comes on more suddenly and can progress to involve not only the skin, but the internal organs. Other symptoms of diffuse scleroderma may include:

• Diffuse thickening and hardening of the skin
• Joint and muscular pain, stiffness, and swelling
• Problems with breathing, swallowing, and digesting food due to thickening and hardening of lung, esophagus, bowel tissues
• Inflammation and thickening of large and small blood vessels

Complications of diffuse scleroderma can affect virtually every system of the body. Prominent complications include:

• Bleeding
• Pulmonary hypertension
• Heart rhythm problems
• Heart failure
• Kidney failure
• High blood pressure
• Gangrene

The doctor will ask about your symptoms and medical history, and perform a physical exam. Diagnosis is based on changes in the skin. Other tests may include:

• Blood tests
• Esophagus motility study
• Imaging tests—plain x-rays , CT scan , or MRI scan to look at internal organs
• Biopsies of skin and other tissues—removing a sample of tissue for testing

There is no treatment to cure scleroderma. Treatments are aimed at relieving symptoms.

There are no guidelines for preventing scleroderma because the cause is unknown.