ABSTRACT
The neurofibromatosis (NF) consists of at least three distinct autosomal dominantly inherited disorders: neurofibromatosis 1 (NF1), neurofibromatosis 2 (NF2) and schwannomatosis. Historically, these conditions were aggregated as generalized NF. The heritable nature of NF2 was reported in 1920 by Feiling and Ward, who described a three-generation family with vestibular schwannomas (VS). The NF2 protein is a cell cytoskeleton-associating protein of 595 amino acids coded by the 17 exons of the NF2 gene. It is expressed in many tissues including neurons, Schwann cells and meningeal cells. Most individuals with NF2 present with hearing loss that may be accompanied or preceded by tinnitus. Other vestibular presenting symptoms of VS are dizziness or imbalance. Skin abnormalities are useful in diagnosis, but cutaneous features of NF2 are much more subtle than those seen in patients with NF1. NF2 presents complex management issues and patients should be managed by a multidisciplinary team consisting of a neurosurgeon, otolaryngologist, audiologist, ophthalmologist, neuroradiologist and geneticist.
