Neurofibromatosis

Common Name(s)

Neurofibromatosis

Neurofibromatosis (NF) is a group of genetic disorders that are caused by changes (mutations) in genes that help control cell growth. All forms of NF cause noncancerous (benign) tumors to develop along nerves, in the brain, or along the spinal cord. In some cases, the tumors can become cancerous (malignant). There are two main types of NF, neurofibromatosis type 1 (NF1) and neurofibromatosis type 2 (NF2). The type and severity of NF symptoms depends on the type of NF a person has and can include changes to skin color (pigment), benign tumors under the skin (neurofibromas), changes to the colored part of the eye (Lisch nodules), high blood pressure, delays in development, and hearing loss.

NF1 is caused by mutations in the NF1 gene while NF2 is caused by mutations in the NF2 gene. Both genes are tumor suppressors for nerve cells, which means they help control nerve cell growth and division. A mutation in either gene leads to uncontrolled nerve cell growth, which causes tumor development in nerve tissue throughout the body. Both conditions are inherited in an autosomal dominant way, which means a mutation in one of two copies of the gene a person has is enough to cause the condition. Each child of a person with NF has a 50% of also having NF.

There are clinical criteria that doctors use to diagnose NF. The condition is usually diagnosed by a doctor who is familiar with skin conditions (dermatologist) or genetic conditions (geneticist). Genetic testing is used to confirm the clinical diagnosis. Although NF does not have a cure, management of many of the symptoms is possible. Treatment usually involves surveillance of tumor growth in the body and, if necessary, surgery to remove tumors that are causing severe symptoms. If your child has been diagnosed with NF, talk with their doctor to determine a treatment plan. More information and support is available through NF support groups.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Neurofibromatosis" for support, advocacy or research.

Littlest Tumor Foundation

The Littlest Tumor Foundation is a nonprofit organization dedicated to finding preventative therapies and threatment for tumor growth in children and providing wellness scholarships to families dealing with Neurofibromatosis (NF). Our mission is to increase understanding of NF, to empower families dealing with the disorder, and to continue research of preventative therapies.

Last Updated: 4 Feb 2013

View Details
Logo
Neurofibromatosis Midwest

Neurofibromatosis Midwest provides hope to those with neurofibromatosis by funding clinical trials and ongoing research for a cure. We are dedicated to providing comfort through emotional support, education and improved clinical care.

Last Updated: 13 Feb 2013

View Details
Neurofibromatosis, Inc., Northeast

Our mission is to find treatments and the cure for neurofibromatosis by promoting scientific research, creating awareness, and providing hope and support to those who are affected by NF.

Last Updated: 5 May 2014

View Details
Logo
Pediatric Brain Foundation

Pediatric Brain Foundation's Mission is Three-fold: 1. Expedite scientific research to find treatments and cures for ALL of the more than 14 million children, in the U.S. alone, living with some form of neurological disorder 2. Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology 3. Educate the public and public officials on the critical importance of funding pediatric neurological research

Last Updated: 22 Apr 2015

View Details
Logo
Texas Neurofibromatosis Foundation

We are committed to meeting the needs of people challenged with neurofibromatosis by providing care, comfort, support, information, education, funding and other resources for its treatment, prevention and cure.

Last Updated: 3 Jan 2013

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Neurofibromatosis" for support, advocacy or research.

Littlest Tumor Foundation

The Littlest Tumor Foundation is a nonprofit organization dedicated to finding preventative therapies and threatment for tumor growth in children and providing wellness scholarships to families dealing with Neurofibromatosis (NF). Our mission is to increase understanding of NF, to empower families dealing with the disorder, and to continue research of preventative therapies.

http://www.littlesttumor.org

Last Updated: 4 Feb 2013

View Details
Logo
Neurofibromatosis Midwest

Neurofibromatosis Midwest provides hope to those with neurofibromatosis by funding clinical trials and ongoing research for a cure. We are dedicated to providing comfort through emotional support, education and improved clinical care.

http://www.nfmidwest.org

Last Updated: 13 Feb 2013

View Details
Neurofibromatosis, Inc., Northeast

Our mission is to find treatments and the cure for neurofibromatosis by promoting scientific research, creating awareness, and providing hope and support to those who are affected by NF.

http://www.nfincne.org

Last Updated: 5 May 2014

View Details
Logo
Pediatric Brain Foundation

Pediatric Brain Foundation's Mission is Three-fold: 1. Expedite scientific research to find treatments and cures for ALL of the more than 14 million children, in the U.S. alone, living with some form of neurological disorder 2. Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology 3. Educate the public and public officials on the critical importance of funding pediatric neurological research

http://www.pediatricbrainfoundation.org

Last Updated: 22 Apr 2015

View Details
Logo
Texas Neurofibromatosis Foundation

We are committed to meeting the needs of people challenged with neurofibromatosis by providing care, comfort, support, information, education, funding and other resources for its treatment, prevention and cure.

http://www.texasnf.org

Last Updated: 3 Jan 2013

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Neurofibromatosis" returned 1122 free, full-text research articles on human participants. First 3 results:

[Lisch nodule in neurofibromatosis type 1].
 

Author(s): Yassine Abaloun, Yousra Ajhoun

Journal:

 

Neurofibromatosis type 1 (NF1) or Von Recklinghausen disease manifests as cutaneous café-au-lait spots and neurofibromas. It is one of the most common autosomal dominant genetic diseases. It is extremely variable in its individual manifestation. Cutaneous and neurologic symptoms ...

Last Updated: 5 Oct 2017

Go To URL
Lady with wings: a case report of giant neurofibromatosis type I.
 

Author(s): Suraj Maharjan, Xiucun Li, Jianli Cui, Yang Liu, Laijin Lu

Journal: Medicine (Baltimore). 2017 Jul;96(29):e7523.

 

Neurofibromatosis type I (NF-I) accounts for approximately 90% of neurofibromatosis. NF-I is an autosomal dominant genetic disease which results from the gene mutation of NF-I situated in chromosome 17q11.2.

Last Updated: 20 Jul 2017

Go To URL
Malignant peripheral nerve sheath tumor with and without neurofibromatosis type 1.
 

Author(s): Roberto André Torres de Vasconcelos, Pedro Guimarães Coscarelli, Regina Papais Alvarenga, Marcus André Acioly

Journal: Arq Neuropsiquiatr. 2017 Jun;75(6):366-371.

 

In this study, we review the institution's experience in treating malignant peripheral nerve sheath tumors (MPNSTs). A secondary aim was to compare outcomes between MPNSTs with and without neurofibromatosis type 1 (NF1).

Last Updated: 28 Jun 2017

Go To URL

Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Neurofibromatosis" returned 122 free, full-text review articles on human participants. First 3 results:

[A giant hyperostotic parasagittal meningioma in a child with neurofibromatosis type II (a case report and literature review)].
 

Author(s): A N Savateev, A N Konovalov, S K Gorelyshev, L A Satanin, E A Khukhlaeva, L V Shishkina, V I Ozerova, E F Valiakhmetova, O A Medvedeva

Journal: Zh Vopr Neirokhir Im N N Burdenko. ;80(6):66-73.

 

Large parasagittal meningiomas, in particular hyperostotic ones, in children are rare and problematic in the differential diagnosis. The literature reports only single clinical cases related to this issue; opinions about the indications, surgical treatment options, and prognosis are ...

Last Updated: 31 Jan 2017

Go To URL
The Role of [(18)F]FDG-PET/CT in Predicting Malignant Transformation of Plexiform Neurofibromas in Neurofibromatosis-1.
 

Author(s): David Tovmassian, Muzib Abdul Razak, Kevin London

Journal: Int J Surg Oncol. 2016 ;2016():6162182.

 

Background. Malignant peripheral nerve sheath tumours (MPNSTs) are difficult to diagnose and treat and contribute to significant morbidity and mortality for patients with Neurofibromatosis-1 (NF-1). FDG-PET/CT is being increasingly used as an imaging modality to discriminate between ...

Last Updated: 6 Jan 2017

Go To URL
Childhood neurofibromatosis type 2 (NF2) and related disorders: from bench to bedside and biologically targeted therapies.
 

Author(s): M Ruggieri, A D Praticò, A Serra, L Maiolino, S Cocuzza, P Di Mauro, L Licciardello, P Milone, G Privitera, G Belfiore, M Di Pietro, F Di Raimondo, A Romano, A Chiarenza, M Muglia, A Polizzi, D G Evans

Journal: Acta Otorhinolaryngol Ital. 2016 Oct;36(5):345-367.

 

Neurofibromatosis type 2 [NF2; MIM # 101000] is an autosomal dominant disorder characterised by the occurrence of vestibular schwannomas (VSs), schwannomas of other cranial, spinal and cutaneous nerves, cranial and spinal meningiomas and/or other central nervous system (CNS) tumours ...

Last Updated: 13 Dec 2016

Go To URL
 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

Non-invasive Stimulation in Neurofibromatosis Type 1
 

Status: Recruiting

Condition Summary: Neurofibromatosis 1

 

Last Updated: 10 Oct 2017

Go to URL
Hypotonia and Neurofibromatosis Type 1 (NF1) Glioma
 

Status: Recruiting

Condition Summary: Neurofibromatosis Type 1

 

Last Updated: 16 Mar 2017

Go to URL
Efficacy of Computerized Cognitive Training and Stimulant Medication in Neurofibromatosis Type 1
 

Status: Recruiting

Condition Summary: Neurofibromatosis Type 1

 

Last Updated: 13 Mar 2017

Go to URL