Neurofibromatosis NF , a type of phakomatosis or syndrome with neurological and cutaneous manifestations, is a rare genetic disorder that typically causes benign tumors of the nerves and growths in other parts of the body, including the skin.
Some people with this disorder have barely noticeable neurological problems, while others are affected profoundly. NF1 manifests itself at birth or during early childhood. Enlargement and deformity of bones and curvature of the spine scoliosis may also be present.
On occasion, people with NF1 may develop tumors in the brain, on the cranial nerves or involving the spinal cord. NF2 may appear during childhood, adolescence or early adulthood.
NF2 is primarily characterized by benign tumors of the nerves that transmit sound impulses and balance signals from the inner ears to the brain. Tumors commonly affect both the left and right bilateral hearing and balance vestibulocochlear nerves. A third related disorder, called schwannomatosis , has been recognized. While schwannomatosis may share many features with NF1 and NF2, current evidence suggests that it is a distinct genetic disease.
This disorder is more frequently diagnosed in adults aged 30 and older and is characterized by benign tumors called schwannomas that affect nerves. NF1 is caused by mutations in the gene that controls production of a protein called neurofibromin neurofibromin 1.
