In “What’s in a Name?,” we explore how neurologic disorders get their names and how some of them have changed to reflect new understanding and cultural sensitivities.
We’ve looked at Sydenham chorea, which was once called St. Vitus dance, and neuromyelitis optica, which was originally called Devic’s syndrome. Here, we talk about neurofibromatosis type 1 (NF-1), a disorder first called von Recklinghausen Syndrome.
Original Name
In 1849, Robert William Smith, MD, first described neurofibromas as tumors composed of bundles of nervous tissue. The German pathologist Friedrick Daniel von Recklinghausen, MD, compared these findings to what he observed in his own patients who had similar skin tumors composed of fibrous cells. He also noted birthmarks known as café au lait spots and freckling in the groin or armpits in these patients. He first published his findings in 1882 in a German publication and thereafter the condition was known as von Recklinghausen syndrome.
New Name
Once the syndrome was recognized, other physicians began to report cases and their understanding grew. Researchers learned that it can be inherited, occur in the eye, and is associated with tumors of the optic nerve. As physicians described other disorders that had central nervous syndrome and skin tumors, they realized the condition needed a more specific name. In 1988, it was designated neurofibromatosis type 1 (NF-1), primarily to help distinguish it from related syndromes like neurofibromatosis type 2 (NF-2).
How It’s Diagnosed
NF-1 is a rare genetic disorder caused by a mutation in the NF1 gene that results in underproduction of neurofibromin (a protein necessary for regulating cell growth). The mutation increases the risk of different types of mostly benign tumors called neurofibromas, which can occur on the skin, the nervous system, and the brain. The tumors are rarely painful unless they grow on the nerve lining. Early symptoms of NF-1 are discolorations called café au lait spots and freckling of the armpits and groin. Disease severity varies from patient to patient and certain conditions such as high blood pressure, stroke, and other types of tumors can co-occur. NF-2 is caused by mutations in the NF2 gene that affects production of a protein called schwannomin, which normally suppresses tumor growth. In NF-2, the mutation causes tumors called schwannomas, which occur in peripheral nerves that control facial movements and hearing. While usually benign, schwannomas can affect nerve function and cause hearing loss, facial weakness, and pain. Café au lait spots or freckling do not occur with NF-2.
How It’s Treated
NF-1 tumors can be treated with surgery and chemotherapy. In 2020, the U.S. Food and Drug Administration approved selumetinib (Koselugo) to treat children with NF-1 tumors, including large neurofibromas called plexiform neurofibromas. Several clinical trials are testing drugs similar to selumetinib to treat all types of tumors associated with the disease.
