Understanding Neurofibromatosis (NF): Causes, Symptoms, and Treatments

Understanding Neurofibromatosis (NF): Causes, Symptoms, and Treatments

Julie Scott, DNP
Julie Scott, DNP
Neurofibromatosis (NF) | cancerGO

What is Neurofibromatosis (NF)?

Neurofibromatosis (NF)  is a genetic disorder affecting nerve cell growth and development. It is characterized by the development of benign tumors called neurofibromas on nerve tissue and other symptoms.

There are three types of neurofibromatosis: NF1, NF2, and Schwannomatosis. NF1 is the most common type of neurofibromatosis and is caused by a mutation in the NF1 gene. The condition is inherited in an autosomal dominant manner, meaning that an affected individual has a 50% chance of passing the mutation on to each of their children.

NF2 is caused by a mutation in the NF2 gene. The condition is inherited in an autosomal dominant manner. Schwannomatosis is caused by a mutation in either the SMARCB1 or LZTR1 gene. It is also inherited in an autosomal dominant manner.

Symptoms

Each type of neurofibromatosis can have somewhat different symptoms. Some of these symptoms can include:

  • Skin pigment changes
  • Multiple cafe-au-lait spots on the skin
  • Multiple neurofibromas (tumors that develop along nerves) in multiple areas of the body
  • Bone abnormalities
  • Pain
  • Weakness

The tumors associated with neurofibromatosis are non-cancerous (benign), but some may have an increased cancer risk. Where the neurofibromas develop and how large they become can lead to other symptoms.

Diagnosis

The diagnosis of neurofibromatosis is based on clinical symptoms and evaluation of the tumors. Genetic testing can confirm the diagnosis. Imaging studies such as MRI or CT scans can also be used to evaluate the size and location of tumors.

Treatment

Treatment for neurofibromatosis depends on the type and severity of the symptoms. In some cases, no specific treatment may be needed other than observation.

For others, surgery may be used to remove tumors causing pain or other problems.

In 2020, medication was approved to treat NF1 in children over 2 with certain types of tumors. The medication, Koselugo, works by blocking an enzyme the tumors need to grow.

 

NF can be a mild condition or one that causes severe disability. There is currently no cure, but treatments are available to manage symptoms and help people with NF live full lives. With early diagnosis and treatment, most people with NF have a good prognosis. If you or someone you know has signs or symptoms of NF, make an appointment with your doctor.

Julie Scott, DNP
Julie Scott, DNP
Julie is an oncology certified Oncology Nurse Practitioner with over a decade of medical oncology experience. In addition to her clinical work, she is an accomplished healthcare writer providing oncology content for various publications. She also serves as an adjunct faculty member for a Master's nursing program and a chair for Doctoral nursing students.

Download our
mobile app

Share this post
You may also like
Articles
Retinoblastoma – The Rare Eye Cancer
January 23, 2023

What is Retinoblastoma? Retinoblastoma is a rare type of eye cancer that develops in the retina. The retina is the part of the eye that converts light into signals the brain uses to see. It is most commonly diagnosed in children under the age of 5, but can also occur…

Julie Scott, DNP

author

Articles
What is mantle cell lymphoma?
December 22, 2022

Mantle cell lymphoma is a type of non-Hodgkin's lymphoma cancer that grows in the lymphatic system. The lymphatic system is responsible for moving fluids around the body and transporting the immune system. Mantle cell lymphoma is not common and is responsible for less than 10% of lymphoma diagnoses. It’s most…

Julie Scott, DNP

author

Articles
Why a second opinion after a cancer diagnosis matters
November 6, 2022

Cancer care is an ever-evolving field where new treatments are continuously developed. So, it is always worth getting a second opinion when a person is diagnosed with cancer. Furthermore, research evidence indicates that most early-stage cancer patients are satisfied with the opinion of their first oncologist. So, what is a…

Vino Cherian

administrator

cancerGO gives you access to a community

Where are people to listen, answer questions, share information, and offer valuable and timely advice