The study of the genetics of a rare hereditary disease called hard skin syndrome, researchers at the Johns Hopkins Medicine have learned more about scleroderma, a disease that affects about 5,000 people which led to a hardening of the skin and other debilitating and often fatal problems. The findings, appearing this week in Science Translational Medicine, the doors open to experimenting with new treatments. “Scleroderma is a mystery still common and often devastating yet their cause. My greatest hope is that this work will facilitate the development of new treatments and better,” said Harry C. Dietz, MD, Victor A. McKusick Professor of Genetics and director of the Johns Hopkins Center, William S. Smilow Marfan Syndrome Research.
Also known as systemic sclerosis, scleroderma usually affects previously healthy young adults, causing scarring of the skin and internal organs that can cause heart and lung failure. “Often, people with scleroderma have no family members involved, excluding the use of genetic techniques for mapping genes of the base. Instead, he went to a rare hereditary skin fibrosis isolated syndrome called Die Hard , with the hope of getting into the cellular mechanisms that may be relevant to both conditions, “said Dietz.