Neurofibromatosis is a progressive and autosomal dominant inherited disorder of the nervous system which causes tumors to form on the nerves anywhere in the body, at any time. Neurofibromatosis skin lesions are typically flat, pigmented patches but occasionally are elevated flesh-colored bumps.
Type 1 Neurofibromatosis NF1. It causes skin changes and deformed bones can affect the spinal cord and brain, often contributing to learning disabilities, and usually starts at birth. Its frequency is approximately 1 per neonates, regardless of sex or ethnic background. Neurofibromatosis Type 1 symptoms include skin, bone, and eye abnormalities, nerve tumors neurofibromas , learning and attention deficits and heart defects.
The diagnosis of Type 1 Neurofibromatosis is made through clinical assessment including patient history and physical examination. Type 2 Neurofibromatosis NF2. It causes hearing loss, ringing in the ears, and poor balance. Type 2 Neurofibromatosis is a tumor disposition syndrome of autosomal dominant inheritance that is found in approximately 1 per 33, births. Half of all cases arise through de novo mutations. Neurofibromatosis Type 2 symptoms include nervous system tumors, cataracts, tinnitus ringing or buzzing in the ears , hearing loss, and balance problems.
Several clinical manifestations of NF2 include vestibular nerve schwannoma, meningiomas, spinal tumors, ependymomas and peripheral neuropathy. There are a number of Neurofibromatosis testing and screening methods for the diagnosis of Neurofibromatosis Type 2 such as physical examination, medical history and tests for particular symptoms, such as hearing or balance tests.
Schwannomatosis SWN. Schwannomatosis is the rarest Neurofibromatosis form and causes intense pain. Schwannomatosis is genetically and clinically distinct from NF1 and NF2.
