Neurofibromatosis (NF) refers to a group of three distinct genetic conditions in which tumors grow in the nervous system.
Neurofibromatosis type I (NF1) is typically characterized by café au lait spots (light-brown flat patches of skin), neurofibromas (small bumps in or under the skin), scoliosis (side-way curvature of the back), and headaches.
[2] Neurofibromatosis type II (NF2), on the other hand, may present with early-onset hearing loss, cataracts, tinnitus, difficulty walking or maintaining balance, and muscle atrophy.
[2] The third type is called schwannomatosis and often presents in early adulthood with widespread pain, numbness, or tingling due to nerve compression.
[1] While the condition typically worsens with time, most people with NF1 have a normal life expectancy.
[4] Neurofibromatosis type 1 in early life may cause learning and behavior problems – about 60% of children who have NF1 have mild difficulty in school.
[10] Symptoms may include pain due to pressure on nerves, tinnitus, weakness in fingers, numbness, headaches.
[23] The diagnosis of neurofibromatosis is done via the following means:[24] Conditions similar to NF include: Surgical removal of tumors is an option; however, the risks involved should be assessed first.
[29] It is recommended that children diagnosed with NF1 at an early age have an examination each year, which allows any potential growths or changes related to the disorder to be monitored.
In some cases of NF2, the damage to nearby vital structures, such as other cranial nerves and the brain stem, can be life-threatening.
[1] While the condition typically worsens with time, most people with NF1 have a normal life expectancy.
[6] The conditions were formally described by Friedrich Daniel von Recklinghausen in 1882, after whom it was previously named.