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Neurofibromatosis is an autosomal dominant genetic disorder. It encompasses a set of distinct genetic disorders that cause tumors to grow along types of nerves and, in addition, can affect the development of non-nervous tissues such as bones and skin. The tumors can grow anywhere on or in the body. Incidence is 1:3,000.
Additional recommended knowledge
Neurofibromatosis was discovered in 1882 by Von Recklinghausen. He wrote on it and published it in Hämochromatose, Tageblatt der Naturforschenden Versammlung.
Joseph Merrick, the 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 or perhaps a combination of the two conditions.
Apart from the common form, there are two rarer forms and several even rarer forms:
Neurofibromatosis type 1 - mutation of neurofibromin chromosome 17q11.2
Neurofibromatosis type 2 - mutation of merlin chromosome 22q12
Schwannomatosis - gene involved has yet to be identified
Genetics and Hereditability
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 (Korf and Rubenstein 2005). 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 spontaneously through random mutation, with no family history. These spontaneous or sporadic cases account for about one half of neurofibromatosis cases (ibid).
Neurofibromatosis is considered a member of the neurocutaneous syndromes (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, the inherited neurofibromatosis of the Barnes family is a driving plot device, though the portrayal of the condition does leave something to be desired in terms of scientific fact.
It has been mentioned as a possible diagnosis many times in the Fox drama House.
The disease is also a pivotal plot element in the Icelandic film Mýrin (Jar City) and the novel in which it was based.
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.
|This article is licensed under the GNU Free Documentation License. It uses material from the Wikipedia article "Neurofibromatosis". A list of authors is available in Wikipedia.|