Massachusetts General Hospital Neurofibromatosis Clinic

Founded in 1982 by Dr. Robert Martuza, the Massachusetts General Hospital Neurofibromatosis Clinic was one of the first to acknowledge the unique multi-disciplinary problems that the NF patient and family face–and the vital role that a dedicated clinic plays in the research community. The Neurofibromatosis Clinic offers a comprehensive initial evaluation to all persons in whom a diagnosis of neurofibromatosis has been suggested or confirmed. In addition to a neurological examination this includes a dermatological evaluation and referral for neuro-ophthalmological evaluation and imaging studies. Many persons come to the clinic with a diagnosis of “rule out neurofibromatosis” and the role of the clinic is to clarify whether or not that diagnosis can be made. Others come because they are a first degree relative of an NF patient and are thus at 50-50 risk for the disease. Because so much is now known about the natural history and genetic risks of these diseases, it is always important to make a clear diagnosis at the onset in any one person.