By studying the genetics of an autosomal dominant disorder called “stiff skin syndrome,” a rare congenital form of scleroderma, researchers at the Johns Hopkins University School of Medicine and collaborating institutions have learned more about the much more common acquired form of scleroderma, also called systemic sclerosis. Systemic sclerosis affects approximately one in 5,000 people and leads to hardening of the skin, as well as to other debilitating and often life-threatening problems. “[Acquired] scleroderma is a common and often devastating condition, yet its cause remains mysterious. My greatest hope is that this work will facilitate the development of new and better treatments,” said senior author Dr. Harry C Dietz, the Victor A. McKusick Professor of Genetics and Director of the Johns Hopkins William S. Smilow Center for Marfan Syndrome Research. Acquired scleroderma generally affects previously healthy young adults, causing scarring of skin and internal organs that can lead to heart and lung failure. “Most often individuals with [acquired] scleroderma do not have other affected family members, precluding use of genetic techniques to map the underlying genes. Instead, we turned to a rare but inherited form of isolated skin fibrosis called “stiff skin syndrome,” hoping to gain a foothold regarding cellular mechanisms that might prove relevant to both conditions,” said Dr. Dietz. A number of clues led Dr. Dietz and his team to strongly suspect a role for the connective tissue protein fibrillin-1 in these skin conditions. First, excess collagen is a hallmark feature of both stiff skin syndrome and acquired scleroderma.
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