Scleroderma: Focus of Innovative Study

Uncommon, mysterious disease is the most life-threatening form of arthritis

A scientist in the UCSF Division of Rheumatology has launched an ambitious study that will hopefully yield important new insights on the rare and devastating disease, scleroderma. The division's commitment to this investigation reflects its long tradition of inquiry into "orphan" forms of arthritis, which are often overlooked in scientific circles because they afflict small numbers of people.

Dr. Kari Connolly, Director of the UCSF Scleroderma Research Center — one of only a handful of its kind in the country — heads the new study, which aims to understand the origin and development of scleroderma. Like many forms of arthritis under investigation at UCSF, scleroderma is chronic autoimmune disease in which the body attacks itself.

"This is a very serious disease with a very serious outcome," says Dr. Connolly. "This is the most life-threatening rheumatic disease and we don't know which patients are likely to have the worst problems."

According to Dr. Connolly, a major challenge treating scleroderma — which primarily strikes women between 30 and 50 years of age, but also affects men and children — is that it takes a long time for most patients to get a correct diagnosis, thus delaying possibly helpful early therapy. Not only is this form of arthritis rare, it can affect people in dramatically different ways and mimic symptoms of other forms of arthritis, including rheumatoid arthritis and lupus. It is estimated that some 200,000 Americans have scleroderma, which means "hard skin," although the hardening and tightening of the connective tissue caused by the disease often also has devastating effects on the joints, blood vessels, skeletal muscles and internal organs. At this time, there is no cure.

In her new initiative, Dr. Connolly will utilize a large tissue bank she established of skin biopsies taken from scleroderma patients. By analyzing these biopsies with a highly advanced technology called DNA microarrays, she and her colleagues hope to find "molecular signatures" that would enhance early diagnosis and prognosis. "My dream is to be able to have patients come into the clinic very early in their disease, do a biopsy, and be able to tell them, 'You have a risk of lung disease' or 'You have a risk of kidney disease' or 'Your scleroderma is going to be mild.' That would help us make treatment interventions sooner, hopefully slowing the progression of the disease."

(Published June 2006 in Arthritis Progress Report, the newsletter of the Rosalind Russell Medical Research Center for Arthritis. To be added to our mailing list, please send us a note with your name and address to Your information will not be shared with any other organizations.)

"This is a very serious disease with a very serious outcome."

--Dr. Connolly

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