Neurofibromatosis 56466 226043955 2008-07-16T16:03:18Z Stevenfruitsmaak 247845 re-order sections per [[WP:MEDMOS]], add treatment and ref {{Infobox_Disease | Name = Neurofibromatosis | Image = | Caption = | DiseasesDB = | ICD10 = {{ICD10|Q|85|0|q|80}} | ICD9 = {{ICD9|237.7}} | ICDO = 9540/0 | OMIM = | MedlinePlus = | eMedicineSubj = derm | eMedicineTopic = 287 | MeshID = D017253 | }} '''Neurofibromatosis''' is a [[genetic disorder|genetically-transmitted disease]] in which [[nerve cell]]s ([[Schwann cells]]) grow [[tumors]] ([[neurofibroma]]s) that may be harmless or may cause serious damage by compressing nerves and other tissues. The tumors may cause bumps under the skin, colored spots, skeletal problems, pressure on [[spinal nerve root]]s, and other neurological problems. <ref>http://www.merck.com/mmhe/sec06/ch088/ch088d.html Merck Manual Home Edition, "Neurofibromatosis"</ref> Neurofibromatosis is autosomal dominant, which means that it is autosomal (it affects males and females equally often) and dominant (you only need one copy of the affected gene to get the disorder). Therefore, if only one parent has neurofibromatosis, his or her children have a 50% chance of developing the condition as well. Disease severity in affected individuals, however, can vary (this is called incomplete [[penetrance]]). Moreover, in around half of cases there is no other affected family member because a new mutation has occurred. ==Types== * [[Neurofibromatosis type I]] [[Incidence (epidemiology)|Incidence]] is 1:3,000 * [[Neurofibromatosis type II]] (or "MISME Syndrome"). [[Incidence (epidemiology)|Incidence]] is 1:25,000 * [[Schwannomatosis]]. [[Incidence (epidemiology)|Incidence]] is unknown but thought to be 1:40,000 ==Diagnostic Criteria== ===Neurofibromatosis type 1=== Neurofibromatosis [[NF1|type 1]] - mutation of neurofibromin [[chromosome 17]]q11.2 * Multiple [[neurofibroma]]s on the skin and under the skin; the subcutaneous lumps are characteristic of the disease and increase in number with age. * [[Freckling]] of the [[groin]] and the [[arm pit]]. * A predisposition to particular [[tumor]]s (both [[benign]] and [[malignant]]). These tumors are called neurofibromas. * [[Café au lait spot]]s (pigmented birthmarks). Six or more measuring 1/4 of an inch in childhood and 3/4 of an inch in adulthood. * Skeletal abnormalities such as [[scoliosis]] or [[genu varum|bowing of the legs]] might occur * [[Lisch nodule]]s ([[hamartoma]]s of [[Iris (anatomy)|iris]]), freckling in the iris. * Tumor on the [[optic nerve]], also known as an Optic Glioma * [[Plexiform neurofibroma]], a large tumor involving multiple nerves. *Bowing of the tibia [[Image:Neurofibromatosis plexiform neurofriboma 3.jpg|thumb|right|plexiform neurofibroma]] [[Image:Early neurofibromatosis.jpg|thumb|Patient with multiple small cutaneous neurofibromas 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 type 2=== Neurofibromatosis type 2 - mutation of merlin [[chromosome 22]]q12 * [[bilateral]] [[tumor]]s, [[acoustic neuroma]]s on the [[vestibulocochlear nerve]] * the hallmark of NF 2 is [[hearing loss]] due to [[acoustic neuroma]]s around the age of twenty * the tumors may cause: ** [[headache]] ** [[balance disorder|balance problem]]s, and [[Vertigo (medical)|Vertigo]] ** [[facial weakness]]/[[paralysis]] ** patients with NF2 may also develop other [[brain tumors]], as well as spinal tumors ** [[Deafness]] and [[Tinnitus]] ===Schwannomatosis=== Schwannomatosis - gene involved has yet to be identified # Multiple Schwannomas occur. # The Schwannomas develop on cranial, spinal and peripheral nerves. # Chronic pain, and sometimes numbness, tingling and weakness. # About 1/3 of patients have segmental Schwannomatosis, which means that the Schwannomas are limited to a single part of the body, such as an arm, a leg or the spine. # Unlike the other forms of NF, the Schwannomas do not develop on vestibular nerves, and as a result, no loss of hearing is associated with Schwannomatosis. # Patients with Schwannomatosis do not have learning disabilities related to the disease. ==Genetics and Hereditability == [[Image:Autosomal Dominant Pedigree Chart.svg|thumb|right|[[NF-1]] and [[NF-2]] may be inherited in an [[autosomal dominant]] fashion, as well as through random mutation.]] Neurofibromatosis type 1 is due to [[mutation]] on [[chromosome 17]]q11.2 , the gene product being [[Neurofibromin]] ( a [[GTPase]] activating enzyme).<ref>Fauci, et al ''Harrison's Principle of Internal Medicine'' 16th Ed. p 2453 </ref> Neurofibromatosis type 2 is due to [[mutation]] on [[chromosome 22]]q , the gene product is [[Merlin (protein)|Merlin]], a [[cytoskeletal]] protein. Both NF1 and NF2 are [[autosomal dominant]] disorders, meaning that only one copy of the mutated gene need be inherited to pass the disorder. A child of a parent with NF1 or NF2 and an unaffected parent will have a 50% chance of inheriting the disorder. Complicating the question of heritability is the distinction between genotype and phenotype, that is, between the genetics and the actual manifestation of the disorder. In the case of NF1, no clear links between genotype and phenotype have been found, and the severity and specific nature of the symptoms may vary widely among family members with the disorder.<ref>Korf, Bruce E. and Allan E. Rubenstein. 2005. ''Neurofibromatosis: A Handbook for Patients, Families, and Health Care Professionals.''</ref> In the case of NF2, however, manifestations are similar among family members; a strong genotype-phenotype correlation is believed to exist (ibid). Both NF1 and NF2 can also appear to be spontaneous mutation, with no family history. These cases account for about one half of neurofibromatosis cases (ibid). ==How NF Can Affect You== People with Neurofibromatosis can be affected in many different ways. * There is a very high incidence of learning disabilities in people with NF, it is believed that at least 50% of people with NF have learning disabilities of some type. *The tumors that occur can grow anywhere there is a nerve. This means that **They can grow in places that are very obviously visible to people that you see on the street. **They can also grow in places that can cause other medical issues that may require them to be removed for the patient's safety. *You may end up needing multiple surgeries, depending on where the tumors are. ==Treatment== There is no cure for the disease itself. Instead, people with neurofibromatosis are followed by a team of specialists to manage symptoms or complications. Surgery may be needed when the tumors compress organs or other structures. Less than 10% people with neurofibromatosis develop cancerous growths; in these cases, chemotherapy can be tried.<ref name="JAMApatient">[http://jama.ama-assn.org/cgi/content/full/300/3/352 Neurofibromatosis]. [[Journal of the American Medical Association|JAMA]] patient page, Vol. 300 No. 3, July 16, 2008.</ref> ==History== Neurofibromatosis was discovered in 1882 by the German pathologist [[Friedrich Daniel von Recklinghausen]]. He wrote on it and published it in ''Hämochromatose, ''Tageblatt der Naturforschenden Versammlung''.<ref>{{WhoNamedIt|doctor|1174}}</ref> [[Joseph Merrick]], the [[The Elephant Man (film)|Elephant Man]], was once considered to have been afflicted with either [[elephantiasis]] or neurofibromatosis type I. However, it is now generally believed that Merrick suffered from the very rare [[Proteus syndrome]]. This however has given rise to the common misconception that Neurofibromatosis and "Elephant Man Disease" are one and the same. ==Related disorders== Neurofibromatosis is considered a member of the ''[[neurocutaneous syndrome]]s'' (''phakomatoses''). 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. ==Neurofibromatosis in Pop Culture== In the television series ''[[Dallas (TV series)| Dallas]]'', the inherited neurofibromatosis of the Barnes family is a driving plot device, although the portrayal of the condition does leave something to be desired in terms of scientific fact. The disease is also a pivotal plot element in the Icelandic film [[Jar City (film)|Mýrin]] (Jar City) and [[Tainted Blood]], the novel on which it was based. [[Gillian Anderson]], who played Scully on the [[X-Files]], is a spokesperson and helps in the raising of money for neurofibromatosis, because her brother suffers from the disease. ==Notable Cases== In November 2006, there was an hour-long documentary on the British television network Channel 4 about [[Facing the World]], an organization that helps children with severe facial disfigurements in developing countries. One of the children featured on the documentary was Arianto, an Indonesian boy who suffered from a severe form of neurofibroma resulting in hemifacial giganticism. In January 2008, 32-year-old [[Huang Chuncai]] of China underwent a second operation to remove another 9.9 lb (4.5 kg) of tumor from his face. A previous operation removed 33 pounds (15 kg) from what was originally a 55.7 lb (23 kg) tumor. <ref name="titleABC News: 50-Pound Face Tumor: One Mans Nightmare">{{cite web |url=http://abcnews.go.com/Health/story?id=4116455&page=1 |title=ABC News: 50-Pound Face Tumor: One Man's Nightmare |accessdate=2008-01-23 |format= |work=}}</ref> <ref>Radford, S. (2008-01-11). ''Chinese man has surgery for 10 kg face tumour''. Retrieved on 2008-01-29 from http://www.telegraph.co.uk/news/main.jhtml?xml=/news/2008/01/09/whuang109.xml.</ref> In March 2008 the treatment of 30-year-old neurofibromatosis victim Pascal Coler of France ended after having received what his doctors call the world's first successful full face transplant.<ref>{{cite web |url=http://abcnews.go.com/Health/story?id=4511813&page=1 |title=World's First Full Face Transplant Hailed |date=[[2008-03-25]] |accessdate=2008-03-25 |last=Watt |first=Nick |year=2008 |publisher=abcnews.go.com}}</ref><ref>{{cite web |url=http://www.telegraph.co.uk/news/main.jhtml?xml=/news/2008/03/23/wface123.xml |title=Man has first full-face transplant |date=[[2008-03-25]] |accessdate=2008-03-25 |last=Franklin |first=Katie |year=2008 |publisher=telegraph.co.uk}}</ref> ==See also== {{Wikinews|Interview with Reggie Bibbs on his life with neurofibromatosis}} *[[Neurofibroma]] ==References== {{reflist}} == External links == * [http://www.ninds.nih.gov/health_and_medical/disorders/neurofibro.htm Information page] from the [[National Institute of Neurological Disorders and Stroke]] (part of the [[National Institutes of Health]] in the [[United States]]) -- this Wikipedia article is based largely on this NINDS information page *[http://www.nidcd.nih.gov/health/hearing/acoustic_neuroma.asp Vestibular Schwannoma (Acoustic Neuroma) and Neurofibromatosis] at [[National Institute on Deafness and Other Communication Disorders]] * [http://www.myfoxhouston.com/myfox/pages/News/Detail?contentId=6467368&version=1&locale=EN-US&layoutCode=VSTY&pageId=3.2.1"Just Ask" Campaign encourages informative outreach. The story of Reggie Bibbs.] * [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=162200 NEUROFIBROMATOSIS] from the [[National Center for Biotechnology Information]] * {{DMOZ|Health/Conditions_and_Diseases/Neurological_Disorders/Peripheral_Nervous_System/Neurofibromatosis/}} * [http://www.Cildrenstumorfoundation.org] {{Phakomatoses}} {{Nervous tissue tumors}} [[Category:Genetic disorders]] [[Category:Neurology]] [[Category:Dermatology]] [[de:Neurofibromatose]] [[es:Neurofibromatosis]] [[fr:Neurofibromatose]] [[it:Neurofibromatosi]] [[nl:Neurofibromatose]] [[ja:神経線維腫症]] [[no:Nevrofibromatose]] [[pl:Nerwiakowłókniakowatość]]