Scleroderma is likely caused by a combination of factors, including an external trigger (infection or other exposure) and a genetic predisposition. The Scleroderma Registry will conduct genetic analyses for disease-related genes in patients with scleroderma and their family members (parents, brothers, and sisters).

Scleroderma refers to a group of diseases that involve the abnormal growth of connective tissue, which supports the skin and internal organs. Scleroderma can affect the skin, making it hard and tight; it can also damage the blood vessels and internal organs such as the heart, lungs, and kidneys. Estimates for the number of people in the United States with the systemic (body-wide) form of scleroderma range from 40,000 to 165,000. The number of people with all scleroderma-related disorders is between 250,000 and 992,500.

Researchers believe that several factors interact to produce scleroderma, including abnormal immune activity, potential environmental triggers, and genetic makeup. Scleroderma is not passed on from parents to child, but certain genes may make a person more likely to develop the disease. The goals of this project are to identify the genes that influence disease susceptibility and expression in systemic scleroderma and to establish a repository of DNA, plasma, and serum samples from single case scleroderma families, multicase families, and healthy unrelated volunteers for the use of researchers interested in studying this disease.

Participants in the Registry will have a phone interview regarding disease characteristics and family history. Participants will be sent a blood kit to get a blood sample drawn locally for shipment to the Registry lab. Blood samples will be made available (anonymously) for studies by researchers around the country. In some cases, participants will be asked to sign a release of medical information so that medical records can be obtained to verify the diagnosis.

As of May 2009, this study is no longer enrolling family members.

Inclusion Criteria

• Diagnosis of systemic sclerosis or family members of patients with systemic sclerosis

Or

• Healthy volunteer with no autoimmune disease and without a first-degree relative with a systemic autoimmune disease

Patients diagnosed with Systemic Sclerosis or family member of patients with systemic sclerosis

or

Healthy volunteer with no autoimmune disease and without a first degree relative with a systemic autoimmune disease.