Neurofibromatosis type 1 (NF1) was first described in 1882 by
the German pathologist Von Recklinghausen.
Neurofibromatosis type 2 (NF2) was first described in 1820 by
the Scottish surgeon JH Wishart.
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Von Recklinghausen
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Clinical genetic testing can confirm the presence of a mutation
in the neurofibromatosis type 1 (NF1) gene. Prenatal testing for
NF1 mutations is also possible using amniocentesis or chorionic
villus sampling procedures. Genetic testing for neurofibromatosis
type 2 (NF2) mutations is sometimes available but is accurate only
in about 65 percent of those individuals tested.
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There are no available treatments for the disorders which
underlie either type of neurofibromatosis. To some extent, the
symptoms of NF-1 and NF-2 can be treated individually. Skin tumors
can be surgically removed. Some brain tumors.
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hereditary condition associated with an increased risk of
bilateral acoustic neuromas, other nerve cell tumors and
cataracts.