Affected individuals may need multiple surgeries (such as reduction surgery, or Gamma knife surgery), depending on where the tumors are located.
For instance, those affected with NF 2 might benefit from a surgical decompression of the vestibular tumors to prevent deafness.
live births (carrier incidence 0.0004, gene frequency 0.0002) and is more common than NF-2.
The gene affected in NF-1, is located on the long arm of the chromosome 17 (q11.2).
It occurs following the mutation of neurofibromin on chromosome 17q11.2. Neurofibromin is a tumor suppressor gene whose function is to inhibit the p21 ras oncoprotein.
The severity in affected individuals can vary, this may be due to variable expressivity.
Patients with neurofibromatosis can be affected in many different ways.
Morbidity is often a result of plexiform neuromas, optic gliomas, or acoustic neuromas, but mortality can also be associated with malignant transformation of the neuromas, such as neurofibrosarcomas in patients with NF, particularly NF-1, however severe retardation is not part of the syndrome.
Because of the tumor generating nature of the disorder and its involvement of the nervous system and also because of early onset macrocephaly in the pediatric population, there is often an increased chance of development of epilepsy in those affected.
Neurofibromatosis also increases the risk of leukemia particularly in children; Children with NF-1 have 200 to 500 times the normal risk of developing leukemia compared to the general population.