Neurofibromatosis (NF) Program

The ColumbiaDoctors Neurofibromatosis (NF) Program serves as a comprehensive multispecialty program for the care of those with NF1, NF2, and Schwannomatosis. 

We are an affiliate clinic of the Children's Tumor Foundation NF Clinic Network (NFCN). As part of this network, we provide education, support, counseling, and comprehensive clinical care for patients and families undergoing evaluation for NF1, NF2 or schwannomatosis as well as those diagnosed with these disorders. Our focus is to provide appropriate neurofibromatosis care by way of the most current guidelines for diagnosis and management.

What is neurofibromatosis?

The neurofibromatoses are a group of genetic disorders affecting more than 2 million people worldwide.  There are three distinct types of Neurofibromatosis: NF1, NF2, and schwannomatosis. Each type of neurofibromatosis is caused by a mistake (mutation) on different gene leading to a distinct form of the condition, with varying degrees of severity (meaning individuals experience different levels of severity).

NF1 is the most common neurological disorder caused by a single gene mutation and the most common of the neurofibromatoses. In the United States, it is one of the most common diseases, occurring in 1 out of every 1500 live born infants. The symptoms may be present at birth, or appear in infancy, and progress into adulthood. NF1 is characterized by tan (café au lait) macules on the skin, axillary/inguinal freckling, dermal neurofibromas and iris Lisch nodules (dark raised spots). More concerning complications may include plexiform neurofibromas, optic nerve gliomas, spinal tumors, skeletal abnormalities, vasculopathy, and malignancies. Some individuals with NF1 may have developmental and learning disabilities in individuals with NF1.

NF2 is rarer, and early on may not be easily distinguishable from NF1 solely on physical examination. 90% of infants with NF2 are born with cataracts, therefore infants with a known affected parent or sibling should have an eye examination after birth. Individuals with NF2 can develop tumors that grow on the eighth cranial nerve, which can lead to deafness and balance problems. Tumors of the cranial and peripheral nerves are also common.

Our Approach to Neurofibromatosis

Initial Appointment

During the appointment, you will meet with the genetic counselor/NF clinical coordinator, Michelle Primiano, MS, along with one of our clinical geneticists, Wendy Chung, MD, PhD, Kwame Anyane-Yeboa, MD, Alejandro Iglesias MD, Laura Pisani MD or Jasmin Roohi MD, PhD. Each geneticist has expertise in the care of individuals with neurofibromatosis.

We take a thorough medical and family history is taken and perform a physical examination. We discuss how a diagnosis of NF1/NF2 is made, how it can change over a person’s lifetime, the genetic etiology, and recurrence risks. When applicable, genetic testing is performed.

Treatment Plan

Based on the information obtained from the evaluation, a personalized plan of care is developed including appointment coordination with other specialty providers (such as ophthalmology, radiology, neurology and/or surgery), benefit/insurance investigation with coordination of genetic testing when applicable, contact with the NF Registry and local support group/resources.

Patients may have the opportunity to participate in clinical studies. When needed, our team works with the education system to help tailor your child’s educational plan to help maximize their performance.

If you are planning a family and risk passing on NF to your children, we provide reproductive planning options, including prenatal diagnosis and preimplantation genetic diagnosis.