Discovering Neurofibromatosis: How This Condition Affects Your Body

In the United States, it's estimated that over 100,000 people live with neurofibromatosis in one of its forms. There are three main types of neurofibromatosis, each with its own symptoms and complications. This genetic disorder affects the growth of nerve cells in the body. It can cause benign (noncancerous) tumors on nerves, skin, and other parts of the body. Tumors can grow anywhere in the body, but are most common on the skin, nerves, and spinal cord. In fact, there are three types of neurofibromatosis:

NF1 is the most common form of neurofibromatosis, affecting approximately 1 in 3,000 people worldwide. This condition can affect the skin, bones, and nervous systems. Symptoms can vary widely from person to person, but the most common include:

Light brown spots on the skin, called café-au-lait spots
Small bumps under the skin, called cutaneous neurofibromas
Benign nodules on the iris of the eye, called Lisch nodules
Bone problems, such as curvature of the spine
Learning difficulties
Seizures
Balance and coordination problems

Neurofibromatosis on the face, also known as facial neurofibromatosis, is one of the most distinctive symptoms of NF1. This is because the condition can cause tumors on the nerves that control facial muscles. These tumors can cause facial asymmetry, bulging eyes, hearing problems, and difficulty swallowing.

NF2 is less common than NF1, affecting approximately 1 in 25,000 people worldwide. This form of neurofibromatosis is characterized by the growth of tumors on the auditory nerves that connect the inner ear to the brain. Symptoms can include:

Gradual or sudden hearing loss, often in one ear
Ringing in the ears
Balance and coordination problems
Difficulty swallowing
Headaches and dizziness
Facial muscle weakness

NF1 and NF2 are distinct disorders that affect different systems of the body. However, both are the result of mutations in genes that control cell growth and division. NF1 is caused by a mutation in the NF1 gene, while NF2 is caused by a mutation in the NF2 gene.

Lastly, Schwannomatosis is a rare and hereditary condition characterized by the development of tumors on the peripheral nerves of the body, especially on the nerves that control movement and sensation in the limbs. These tumors, called schwannomas, are generally benign and non-cancerous, but can cause chronic pain and other debilitating symptoms.

Unlike neurofibromatosis type 1 and type 2, which are caused by specific mutations in individual genes, schwannomatosis appears to be caused by mutations in several different genes. Like the forms of neurofibromatosis, schwannomatosis can also be inherited from parents in an autosomal dominant pattern.

Symptoms of Schwannomatosis may include chronic pain in the affected limbs, muscle weakness, numbness and tingling, and changes in touch and temperature sensation. These symptoms can be very debilitating and affect the quality of life of the affected person.

Therefore, the diagnosis of neurofibromatosis is based on clinical symptoms and family history. A comprehensive physical exam is often performed, including an evaluation of the skin and eyes, as well as hearing and balance tests. Imaging studies such as magnetic resonance imaging (MRI) or computed tomography (CT) scans may also be performed to detect tumors and evaluate their size and location.

There is no cure for neurofibromatosis, but treatments are available to control symptoms and reduce the risk of complications. Treatments for NF1 may include surgical removal of tumors and treatment for bone and learning problems. For NF2, treatments may include surgery to remove tumors and radiation therapy to reduce their size. And for schwannomatosis, treatments may include surgical removal of tumors, radiation therapy, and management of chronic pain. Doctors may also prescribe medications to relieve pain and other symptoms associated with the condition.

It is crucial to consult with a specialist in this disorder at an appropriate medical institution as soon as possible to receive proper treatment, mitigate complications, and prevent the disease from progressing. Below are some of the most renowned neurofibromatosis specialists in the country, as well as centers and medical institutions specialized in this disorder:

Dr. Scott R. Plotkin - Neurologist and oncologist at Massachusetts General Hospital and a world leader in neurofibromatosis research and treatment.

Dr. David H. Gutmann - Neuropathologist and neuroscientist at Washington University in St. Louis, who has conducted innovative research on the causes and treatments of neurofibromatosis type 1.

Dr. Bruce R. Korf - Clinical geneticist at the University of Alabama at Birmingham, who has dedicated much of his career to the treatment and research of neurofibromatosis.

Dr. Roger J. Packer - Pediatric neurologist and oncologist at Children's National Hospital in Washington, DC, who is recognized worldwide for his work in treating neurofibromatosis in children.

Dr. Michael J. Fisher - Pediatric oncologist and neurologist at Children's Hospital of Philadelphia, who has developed a comprehensive treatment program for children with neurofibromatosis.

Massachusetts General Hospital - has the Neurofibromatosis and Nervous System Tumors Center, led by Dr. Scott R. Plotkin, which provides diagnosis and treatment for patients with neurofibromatosis.

National Institute of Neurological Disorders and Stroke (NINDS) - part of the National Institutes of Health (NIH), NINDS funds research on neurofibromatosis and other neurological disorders, and also provides information and resources for patients and health professionals.

Children's Hospital of Philadelphia - has the Neurofibromatosis Center, led by Dr. Michael J. Fisher, which offers a multidisciplinary approach to the diagnosis and treatment of neurofibromatosis in children.

The Neurofibromatosis Center at the University of California, Los Angeles (UCLA) - offers diagnosis, treatment, and support for patients with neurofibromatosis, as well as innovative research programs.

It should be noted that neurofibromatosis is a genetic condition, which means it cannot be completely prevented. However, measures can be taken to reduce the risk of complications and improve the quality of life for patients. Here are some tips and care that may be helpful:

Maintain regular follow-up with a neurofibromatosis specialist physician
Undergo medical examinations and assessments of hearing and vision regularly
Protect skin from the sun with sunscreen and appropriate clothing
Maintain a healthy diet and exercise regularly to prevent health problems such as obesity and diabetes
Participate in support programs and patient groups to connect with others living with neurofibromatosis
Undergo genetic testing and genetic counseling to better understand the risk of transmitting the condition to children.

In conclusion, neurofibromatosis is a condition that can be debilitating, but it does not have to define your life. If you or a loved one is dealing with this disease, it is important to seek appropriate support and treatment. Fortunately, there are many resources available to help people with neurofibromatosis lead a full and happy life. With proper care, neurofibromatosis does not have to prevent you from enjoying all the wonderful things that life has to offer.

References:

Mayo Foundation for Medical Education and Research. (2021a, January 21). Neurofibromatosis. Mayo Clinic. https://www.mayoclinic.org/diseases-conditions/neurofibromatosis/symptoms-causes/syc-20350490

U.S. Department of Health and Human Services. (n.d.). Neurofibromatosis. National Institute of Neurological Disorders and Stroke. https://www.ninds.nih.gov/health-information/disorders/neurofibromatosis

Neurofibromatosis. Neurofibromatosis | Johns Hopkins Medicine. (2022, February 24). https://www.hopkinsmedicine.org/health/conditions-and-diseases/neurofibromatosis

Dr. Scott R. Plotkin - https://www.massgeneral.org/doctors/17286/scott-plotkin

Dr. David H. Gutmann - https://physicians.wustl.edu/people/david-h-gutmann-md-phd/ 

Dr. Bruce R. Korf - https://scholars.uab.edu/display/bkorf
 
Dr. Roger J. Packer - https://childrensnational.org/visit/find-a-provider/roger-packer 

Dr. Michael J. Fisher - https://www.chop.edu/doctors/fisher-michael-j 

Hospital General de Massachusetts - https://www.massgeneral.org/ 

Instituto Nacional de Trastornos Neurológicos y Accidentes Cerebrovasculares (NINDS) - https://www.ninds.nih.gov/ 

Hospital Infantil de Filadelfia - https://gps.chop.edu/ 

Centro de Neurofibromatosis de la Universidad de California en Los Ángeles (UCLA) - https://www.uclahealth.org/medical-services/neurosurgery/conditions-treated/neurofibromatosis-type-2-and-schwannomatosis