Neurofibromatosis Type 1
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Neurofibromatosis Type 1
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Authors: Mekka Garcia, MD, NYU Grossman School of Medicine   

Alison L. Christy, MD, PhD, Providence Pediatric Neurology at St. Vincent Medical Center—Portland, Oregon

Reviewed: July 2022

SUMMARY

Neurofibromatosis type 1 (NF1) is a genetic disorder that affects multiple organs. One of its most common features is the growth of tumors along the nerves. It affects about 1 in 3,000 people worldwide. It has no specific racial or gender predominance.  

Affected individuals can have a wide range of symptoms. These can occur even within the same family. There is no cure. However, supportive care is available.

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Disorder Overview

DESCRIPTION

NF1 is due to an abnormality in a gene called neurofibromin 1. This gene is responsible for monitoring cell growth. When this gene is different, cells grow uncontrollably. Cells can be non-cancerous or cancerous.

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SIGNS AND SYMPTOMS

Symptoms between individuals are highly variable. NF1 usually presents in childhood with skin findings such as: 

  • Café-au-lait spots. Dark or light areas of skin can be found in infancy or early childhood. 
  • Neurofibromas. Soft, non-cancerous tumors can grow on or under the skin. 
  • Freckles. These can appear in the armpits or groin area.

Other features of NF1 include:

Macrocephaly (large head).

Macrocephaly (large head).

Seizures.

Seizures are bursts of electrical activity in the brain. They can cause abnormal behavior.

Cardiovascular abnormalities.

These can include:  

  • High blood pressure 
  • Heart abnormalities 
  • Blood vessel abnormalities

Cognitive problems.

These can include: 

Skeletal abnormalities.

These can include: 

  • Short stature 
  • Scoliosis (curved spine)

Eye findings.

These can include: 

  • Lisch nodules (colored spots in the eyes that do not impact vision) 
  • Glaucoma (high pressure in the eye that leads to blindness) 

Non-cancerous and cancerous tumors.

These can include: 

  • Neurofibroma. Benign, slow-growing lesions can arise from a portion of a nerve. They can be on the skin (soft and bluish or flesh-colored) or below the skin (firm and tender). 
  • Plexiform neurofibroma. This is a neurofibroma that involves multiple nerves.  
    • Plexiform neurofibromas can be painful and disfiguring. They may limit limb function or impair organ function. This depends on their location.  
    • Plexiform neurofibroma may undergo malignant transformation into Malignant Peripheral Nerve Sheath Tumors (MPNSTs). These are very aggressive cancerous tumors. 
  • Optic Pathway Glioma. These are the most common tumors found in the brain of NF1 patients. They involve the nerves of the eye and can cause blindness.  

CAUSES

NF1 is due to a change in the neurofibromin 1 gene. This gene is responsible for regulating the growth of cells that can lead to cancer or tumor growth. When there are changes to this gene, it results in uncontrolled cell growth. This can cause abnormal growths or tumors.  

In about half of NF1 cases, a parent passes this abnormal gene to their child. In other cases, the abnormal gene develops spontaneously.

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LABORATORY INVESTIGATIONS

A thorough history, clinical examination, and blood tests are all key to diagnosis. These include: 

  • Genetic testing. The doctor can test for the presence of a neurofibromin 1 mutation. 
  • Magnetic resonance imaging (MRI). A picture of the brain can be reviewed for features of NF1, such as tumors. 
  • Comprehensive eye exam 
  • Comprehensive skin exam 

TREATMENT AND THERAPIES

Currently, there is no cure for NF1. However, supportive care is available. It includes:

Surgery.

The goal of surgery is to remove tumors and treat bone problems.

Anti-seizure medicine.

Medication that prevents seizures can be prescribed.

Back bracing and/or surgery.

Patients can undergo treatments for: 

  • Scoliosis 
  • Other bone problems 
  • Tumor removal 

Developmental therapy.

Therapy can support your child through development. This includes:  

  • Speech therapy 
  • Physical therapy 
  • Occupational therapy

Psychosocial support for families.

Individualized education plan.

A program can be set up with a child’s school to give them the best possible education.

MEK inhibitors.

This refers to a group of medications that can stop cell growth. In some institutions, they are offered to NF1 patients with disfiguring/large neurofibromas.

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OUTLOOK

The outlook for patients with NF1 can vary widely. Most people with NF1 will live to adulthood. However, their life expectancy is reduced by 1 to 15 years compared to the general population. The most common cause of death is malignancy.

Resources 

Neurofibromatosis Network

The mission of Neurofibromatosis Network (NF Network) is to find treatments and a cure for neurofibromatosis by promoting scientific research, improving clinical care, providing outreach through education and awareness, while offering hope and support to those affected by NF. The NF Network is a leading national organization which advocates for federal funding for NF research and builds and supports NF communities. There are some local groups in the U.S. which are listed on the Find a Local Group page. The network is a space to share resources, develop new tools, and create innovative programs. It brings together groups from around the country to speak as one voice on national issues.

Childhood Stroke 1

Child Neurology Foundation (CNF) solicits resources from the community to be included on this webpage through an application process. CNF reserves the right to remove entities at any time if information is deemed inappropriate or inconsistent with the mission, vision, and values of CNF. 

Research 

ClinicalTrials.gov for Neurofibromatosis/NF 1 (birth to 17 years).

ClinicalTrials.gov for Neurofibromatosis/NF 2 (birth to 17 years).

These are clinical trials that are recruiting or will be recruiting. Updates are made daily, so you are encouraged to check back frequently.  

These are clinical trials that are recruiting or will be recruiting. Updates are made daily, so you are encouraged to check back frequently. 

ClinicalTrials.gov is a database of privately and publicly funded clinical studies conducted around the world. This is a resource provided by the U.S. National Library of Medicine (NLM), which is an institute within the National Institutes of Health (NIH). Listing a study does not mean it has been evaluated by the U.S. Federal Government. Please read the NLM disclaimer for details.    

Before participating in a study, you are encouraged to talk to your health care provider and learn about the risks and potential benefits.

Family Stories

From the Neurofibromatosis Network. Meet children, their parents, and adults from around the world living with Neurofibromatosis on the People Spotlight page.

The information in the CNF Child Neurology Disorder Directory is not intended to provide diagnosis, treatment, or medical advice and should not be considered a substitute for advice from a healthcare professional. Content provided is for informational purposes only.  CNF is not responsible for actions taken based on the information included on this webpage. Please consult with a physician or other healthcare professional regarding any medical or health related diagnosis or treatment options. 

References

Ferner RE, Gutmann DH. Neurofibromatosis type 1 (NF1): diagnosis and management. Handb Clin Neurol. 2013;115:939-55. https://doi.org/10.1016/B978-0-444-52902-2.00053-9. PMID: 23931823. 

Yohay K. Neurofibromatosis types 1 and 2. Neurologist. 2006 Mar;12(2):86-93. https://doi.org/10.1097/01.nrl.0000195830.22432.a5. PMID: 16534445.

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