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Neurofibromatosis

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Neurofibromatosis

Neurofibromatosis
Classification and external resources
Back of an elderly woman with neurofibromatosis
ICD-10 Q85.0
ICD-9 237.7
ICD-O: M9540/0
OMIM 162200 101000,162091
eMedicine derm/287
MeSH D017253

Neurofibromatosis (NF) refers to a number of inherited conditions that are clinically and genetically distinct and carry a high risk of tumor formation, particularly in the brain.[1] 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 (it is rarely the case that one person has the mutated gene twice, which would imply a 100% chance of their children developing NF). The severity in affected individuals can vary; this may be due to variable expressivity. Approximately half of cases are due to de novo mutations and no other affected family members are seen. It affects males and females equally. In addition, some individuals may have mosaic NF, in which some but not all cells of the body carry the mutation. The neurofibromatoses are as follows:

Conditions which may be confused with NF-1 but which are not considered NF include:

The Neurofibromatoses are considered as RASopathies and as members of the neurocutaneous syndromes (phakomatoses).[2] In addition to the types of neurofibromatosis, the phakomatoses also include tuberous sclerosis, Sturge-Weber syndrome and von Hippel-Lindau disease. This grouping is an artifact of an earlier time in medicine, before the distinct genetic basis of each of these diseases was understood.

Education

Recently, non-profit and charitable organizations have started to bring awareness and education about Neurofibromatoses to mainstream media in order to better connect those afflicted with helpful resources to lead more productive and satisfying lives.[3] Personalities with the condition, such as Reggie Bibbs, are becoming notable public figures around which others can rally to gain motivation and support.[4]

See also

References

  1. ^ Ferner, Rosalie E., Susan M. Huson, and D. Gareth R. Evans. Neurofibromatoses in clinical practice. Springer, 2011.
  2. ^ 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.  
  3. ^ "About the Foundation « Just Ask! Foundation". Justaskfoundation.org. Retrieved 2014-04-17. 
  4. ^ "Interview with Reggie Bibbs on his life with neurofibromatosis - Wikinews, the free news source". En.wikinews.org. Retrieved 2014-04-17. 

External links

  • Children's Tumor Foundation
  • National Institute of Neurological Disorders and Stroke - information on Neurofibromatosis
  • Neurofibromatosis Type 1
  • A comprehensive list of current NF research studies, maintained by the St. Louis Children's Hospital
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