Back of an elderly woman with neurofibromatosis type 1
Specialty neurosurgery
Symptoms small lumps within the skin, scoliosis, hearing loss[1]
Usual onset birth to early adulthood[1]
Duration life long[1]
Causes genetic[1]
Diagnostic method symptoms, genetic testing[2]
Treatment surgery, radiation therapy[2]
Frequency 1 in 3,000 people (United States)[1]

Neurofibromatosis (NF) is a group of three conditions in which tumors grow in the nervous system. The three types are neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2), and schwannomatosis.[1] In NF1 symptoms include light brown spots on the skin, freckles in the armpit and groin, small bumps within nerves, and scoliosis. In NF2 there may be hearing loss, cataracts at a young age, balance problems, flesh colored skin flaps, and muscle wasting.[2] The tumors are generally non cancerous.[1]

The cause is a genetic mutation in certain genes. In half of cases these are inherited from a person's parents while in the rest they occur during early development. The tumors involve supporting cells in the nervous system rather than the neurons. In NF1 the tumors are neurofibromas (tumors of the peripheral nerves) while in NF2 and schwannomatosis tumors of Schwann cells are more common.[1] Diagnosis is typically based on the signs and symptoms and occasionally supported by genetic testing.[2]

There is no known prevention or cure.[1][2] Surgery may be done to remove tumors that are causing problems or have become cancerous. Radiation and chemotherapy may also be used if cancer occurs. A cochlear implant or auditory brainstem implant may help some who have hearing loss.[1]

In the United States about 1 in 3,500 people have NF1 and 1 in 25,000 have NF2.[1] Males and females are affected equally frequently.[2] In NF1 symptom are often present at birth and otherwise develop before 10 years of age. While the condition typically worsens with time most people with NF1 have a normal life expectancy. In NF2 symptoms may not become apparent until early adulthood. NF2 increases the risk of early death.[1] Descriptions of the condition occur as far back as the 1st century.[3]

Signs and symptoms

Lisch nodules as seen in NF1
Person with multiple small neurofibromas in the skin and a 'café au lait spot' (bottom of photo, to the right of centre). A biopsy has been taken of one of the lesions.

Neurofibromatosis (NF1) in early life may cause learning and behavior problems – about 60% of children who have NF1 have a mild form of difficulty in school.[4] In terms of signs the individual might have are the following:[5][6]


Neurofibromatosis is an autosomal dominant disorder, which means only one copy of the affected gene is needed for the disorder to develop. Therefore, if only one parent has neurofibromatosis, his or her children have a 50% chance of developing the condition as well.The affected child could have mild NF1 even though inherited from a parent with a severe form of the disorder.[7] The types of neurofibromatosis are:


The pathophysiology of neurofibromatosis (type 1) consists of the NF1 gene protein.[11] This protein is a tumor suppressor and therefore serves as a signal regulator of cell proliferation and differentiation. A dysfunction of neurofibromin can affect regulation, and cause uncontrolled cell proliferation. Schwann cells in neurofibromas have a mutation in the NF1 alleles.[12]


The neurofibromatoses are considered as RASopathies and as members of the neurocutaneous syndromes (phakomatoses).[13] The diagnosis of neurofibromatosis is done via the following means:[14]

Differential diagnosis

Conditions which may be confused with NF include, LEOPARD syndrome,[15] and Legius syndrome.[16]


Surgical removal of tumors is an option, however the risks involved should be assessed first.[17] With regard to OPG (optic pathway gliomas), the preferred treatment is chemotherapy. However, radiotherapy isn't recommended in children who present with this disorder.[18] It is recommended that children diagnosed with NF1 at an early age have an examination each year, which allows any potential growths or changes related to the disorder to be monitored.[19]


In most cases, symptoms of NF1 are mild, and individuals live normal and productive lives. In some cases, however, NF1 can be severely debilitating and may cause cosmetic and psychological issues. The course of NF2 varies greatly among individuals. In some cases of NF2, the damage to nearby vital structures, such as other cranial nerves and the brain stem, can be life-threatening. Most individuals with schwannomatosis have significant pain. In some extreme cases the pain will be severe and disabling.[6]


NF1 occurs in 1 in 3000 individuals and is equally prevalent among men and women. Furthermore, it is among the most common inherited nervous system disorders.[20] Such individuals have a 10 to 15 year reduction in life expectancy compared to the average person.[21]

See also


  1. 1 2 3 4 5 6 7 8 9 10 11 12 "Neurofibromatosis Fact Sheet". NINDS. 3 February 2016. Retrieved 7 November 2016. This article incorporates text from this source, which is in the public domain.
  2. 1 2 3 4 5 6 "Learning about Neurofibromatosis". National Human Genome Research Institute (NHGRI). 16 August 2016. Retrieved 7 November 2016. This article incorporates text from this source, which is in the public domain.
  3. Evans, Rosalie E. Ferner, Susan M. Huson, D. Gareth R. (2011). Neurofibromatoses in clinical practice. London: Springer. p. 1. ISBN 978-0-85729-628-3. Retrieved 9 October 2015.
  4. "Neurofibromatosis". NHS Choices. NHS. Retrieved 9 October 2015.
  5. "Neurofibromatosis". NINDS. NIH. Retrieved 9 October 2015.
  6. 1 2 "NINDS Neurofibromatosis Information Page". 23 February 2015. Retrieved 2015-04-21.
  7. Choices, NHS. "Neurofibromatosis type 1 - Causes - NHS Choices". Retrieved 2015-10-09.
  8. "Neurofibromatosis type 1". Genetics Home Reference. 2015-10-05. Retrieved 2015-10-09.
  9. "Neurofibromatosis type 2". Genetics Home Reference. 2015-10-05. Retrieved 2015-10-09.
  10. Perry, Arie; Brat, Daniel J. (2010-01-01). Practical Surgical Neuropathology: A Diagnostic Approach. Elsevier Health Sciences. p. 435. ISBN 0443069824.
  11. "Orphanet: Neurofibromatosis type 1". Retrieved 2015-10-13.
  12. Boyd, Kevin P.; Korf, Bruce R.; Theos, Amy (July 2009). "Neurofibromatosis type 1". Journal of the American Academy of Dermatology. 61 (1): 1–14. doi:10.1016/j.jaad.2008.12.051. PMC 2716546Freely accessible. PMID 19539839.
  13. Conrad Fischer; Farshad Bagheri; Rajpal Manchandani; Richard Pinsker; Sudheer Chauhan; Parenkumar Patel; Mohammad Maruf; Dhaval Satani; Kaushik Doshi; Ayaz Alwani; Naveen Pathak; Craigh Thurm; Mohammad Babury; Mahendra C. Patel; Arthur Shalanov; Samir Sarkar; Sabiha Raouf; Jebun Nahar; Prakashkumar Patel (2010). Master the Board USMLE Step 2 CK. KAPLAN Medical. p. 287. ISBN 978-1-60714-653-7.
  14. "Neurofibromatosis. What is neurofibromatosis? Type 1 (NF1) | Patient". Patient. Retrieved 2015-10-09.
  15. Friedman, J. M. (2014). Pagon, Roberta A.; Adam, Margaret P.; Ardinger, Holly H.; Wallace, Stephanie E.; Amemiya, Anne; Bean, Lora JH; Bird, Thomas D.; Dolan, Cynthia R.; Fong, Chin-To, eds. Neurofibromatosis 1. Seattle (WA): University of Washington, Seattle. PMID 20301288.
  16. Stevenson, David; Viskochil, David; Mao, Rong (2015). Pagon, Roberta A.; Adam, Margaret P.; Ardinger, Holly H.; Wallace, Stephanie E.; Amemiya, Anne; Bean, Lora JH; Bird, Thomas D.; Dolan, Cynthia R.; Fong, Chin-To, eds. Legius Syndrome. Seattle (WA): University of Washington, Seattle. PMID 20945555.
  17. Choices, NHS. "Neurofibromatosis type 2 - Treatment - NHS Choices". Retrieved 2015-10-11.
  18. "Complex Neufibrmatosis type 1" (PDF). NHS. Retrieved 13 October 2015.
  19. Choices, NHS. "Neurofibromatosis type 1 - Treatment - NHS Choices". Retrieved 2015-10-11.
  20. Norden, Andrew D.; Reardon, David A.; Wen, Patrick Y. (2010-12-16). Primary Central Nervous System Tumors: Pathogenesis and Therapy. Springer Science & Business Media. p. 459. ISBN 9781607611660.
  21. Runge, Marschall S.; Patterson, Cam (2007-11-18). Principles of Molecular Medicine. Springer Science & Business Media. p. 1160. ISBN 9781592599639.

Further reading

Wikinews has related news: Interview with Reggie Bibbs on his life with neurofibromatosis
External resources
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