Definition of "Neurofibromatosis"

Last modified: about 1 year



Neurofibromatosis are several genetically inherited conditions that are clinically and genetically different and carry a high possibility of tumor formation. This disorder is divided into Neurofibromatosis type 1, Neurofibromatosis type 2, and Schwannomatosis.

Pathophysiology
  • It is an autosomal dominant disorder, whcih means only 1 copy of the affected gene is needed for the disorder to develop. Therefore, if only 1 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
Classification
  • Neurofibromatosis type 1, in which the nerve tissue grows tumors (neurofibromas) that may be benign, and may cause serious damage by compressing nerves and other tissues
  • Neurofibromatosis type 2, in which bilateral acoustic neuromas (tumors of the vestibulococchlear nerve or CN8 aka schwannoma) develop, often leading to hearing loss
  • Schwannomatosis, in which painful schwannomas develop on spinal and peripheral nerves

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Definition of Neurofibromatosis | Autoprac


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