Neurofibromatosis

Neurofibromatosis (NF) is a genetic condition caused by a gene mutation. NF can be inherited from a parent, or alternatively can result from a new mutation in the affected person. New mutations most likely occur during early fetal development or in the egg or sperm of their parents. There are three types of NF, called NF1, NF2, and schwannomatosis. Although they have similar names, they can be quite different. People with NF face a different set of health risks and concerns than the regular population, and each type of NF is also unique. A confirmative diagnosis by an experienced NF specialist is important so that people with NF know what to expect, what to look out for, and how to live their best and healthiest lives.

The Neurofibromatosis Clinic at The Mount Sinai Hospital

The Neurofibromatosis clinic at The Mount Sinai Hospital serves as a one-stop medical “home” for NF patients who often need help to coordinate appointments with other doctors in fields such as Dermatology, Ear Nose and Throat (ENT), Neurosurgery, Orthopedic Surgery, Rehabilitation Medicine, Headache, Pain Management, and others. Doctors in these other practices are familiar with NF and are truly interested in providing the best care for NF patients.

NF patients have unique and special needs and deserve a dedicated medical NF specialist who stays up to date on new discoveries and knows how to monitor tumors and other health risks, and manages any new challenges that arise. Our clinic is unique in that we listen and respond to issues that matter most to people with NF. We care for both children and adults with NF at the same location, including same-day visits for multiple family members, and help with a seamless transition of care from pediatrics to adult medicine. We have access to advanced imaging techniques such as focused and whole body MRI scans and peripheral nerve ultrasound to monitor the growth of tumors.

We believe that each person’s unique experience can help the NF community to learn, grow, and discover new therapies for NF. Every patient is given the opportunity to donate their de-identified information or tumor tissue to NF research to achieve these goals. We are also developing a clinical research program and plan to open clinical trials in treating the skin bumps and malignant peripheral nerve sheath tumors in NF1 patients and to find the best ways to treat tumors associated with NF2 and schwannomatosis to reduce tumor size and decrease the incidence of invasive surgeries. The NF clinic at Mount Sinai gladly welcomes LGBTQ patients and is committed to affirming our patients’ chosen gender identity and partnering with individuals who are considering or undergoing gender transition.

The Neurofibromatosis Team at Mount Sinai

Our team of physicians care deeply about our patients. We are here to help you every step of the way.

Co-Director of the Neurofibromatosis Clinic at Mount Sinai: Rebecca Brown, MD, PhD

Medical Providers for the Neurofibromatosis Clinic at Mount Sinai

Cardiology: Amy Kontorovich, MD

Dermatology: Nicholas Gulati, MD; Richard Torbeck, MD; Andrea Waldman, MD (pediatric)

Endocrinology: Cesar Abuchaibe, MD

ENT/Otolaryngology: George Wanna, MD 

Neurogenetics: Joanna Jen, MD, PhD

Neuromuscular (peripheral nerve ultrasound): Susan Shin, MD

Neuro-Otology: Maura Cosetti, MD

Neuropsychology: Marilyn Schiller, PhD

Neurosurgery: Konstantinos Margetis, MD; Raj Shrivastava, MD; Joshua Bederson, MD; Peter Morgenstern MD (pediatric)

Ophthalmology/Neuro-ophthalmology: Edward Raab, MD; Tamiesha Frempong, MD; Mark Kupersmith, MD; Abigail Craven, MD

Orthopedic Surgery: Ilya Iofin, MD; Baron Lonner, MD; Sheena Ranade, MD

Plastic Surgery: Peter Taub, MD

Psychiatry: Mark Kurzrok, MD

Radiation Oncology: Sonam Sharma, MD; Stanislav Lazarev, MD

Sarcoma Oncology: Bobby Liaw, MD

Stroke Neurology: Johanna Fifi, MD