Neurofibromatosis 1 (NF1) is a genetic disorder that can cause disfiguring, fleshy growths to develop on or under the skin. Now, a national team of researchers including James Wymer, M.D., Ph.D., a UF professor of neurology and director of the neuromuscular division, has identified a novel pathway for potential treatment of this distressing condition, which typically is diagnosed in childhood or early adulthood. The findings were published today in the journal PLOS One.
The new pathway was discovered while researchers were examining the skin of neurofibromatosis patients to determine whether the patients also had neuropathy, or damage to peripheral nerves. In taking biopsies of the skin, the team found “microneurofibromas,” or tiny growths before they became full-fledged neurofibromas.
The finding provides a pathway to develop new drugs to treat the condition much earlier than current treatments including creams, Wymer said.
“What I think is most valuable about this is it represents a novel approach to neurofibromatosis that may give us new treatment options to address this devastating disease,” Wymer said.
The study, which involved 19 NF1 patients and 16 non-NF1 subjects, challenges the accepted belief that neurofibromas begin as tumors and identifies masses of nerve fibers in the skin as a key source of neurofibromas in NF1.
“Instead of a typical cancer-related approach that focused on neurofibromas as benign tumors, we took a different tactic of investigating why NF1 patients also suffer from chronic pain and itch, even in areas of the skin without neurofibromas. These symptoms had received little attention,” said lead investigator Frank Rice, Ph.D., a specialist in chronic pain research and President of Integrated Tissue Dynamics LLC in Rensselaer, New York in a news release. “To our surprise, we discovered that nerve fibers in the skin were actually a previously unknown source of the neurofibromas. This discovery provides insight into completely novel and testable strategies for stopping their development.”