Neurofibromatosis is a rare genetic disorder that causes benign tumors of the nerves and growths in other parts of the body. Some people with this disorder have barely noticeable neurological problems, while others are affected profoundly. There are two primary types: neurofibromatosis Type 1 (NF1), and neurofibromatosis Type 2 (NF2).

NF1 manifests itself at birth or during early childhood. NF1 is characterized by multiple light brown (cafe-au-lait) spots and benign tumors on or under the skin. Enlargement and deformation of bones and curvature of the spine (scoliosis) may also be present. On occasion, people with NF1 may develop tumors in the brain, on cranial nerves, or on the spinal cord.

NF2 may first appear during childhood, adolescence or early adulthood. NF2 is primarily characterized by benign tumors of the nerves that transmit sound impulses from the inner ears to the brain. Tumors commonly affect both of the auditory nerves.

A third related disorder, called schwannomatosis has recently been recognized. While schwannomatosis shares many features with NF1 and NF2, current evidence suggests that it is a distinct genetic disease. This disorder is more frequently diagnosed in adults age 30 and older.

Neurofibromatosis Overview

  • Causes and Risk Factors

  • Other Names

  • Treatment and Management

  • Diagnostic Criteria/Signs of NF1

  • Diagnostic Criteria/Signs of NF2

  • Diagnostic Criteria/Signs of Schwannomatosis


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