Background: Neurofibromatosis types 1 and 2 (NF1 and NF2) are autosomal dominant neurocutaneous disorders with some similarities and many differences. They are frequently discussed together and often confused for one another by clinicians. Both disorders have widely variable presentations and degrees of severity. A thorough understanding of these complex disorders is essential for proper medical management, anticipatory care, and patient education.
Review summary: In this article, the clinical features, genetics, pathogenesis, and management of neurofibromatosis types 1 and 2 are reviewed and compared.
Conclusions: NF1 and NF2 are complex genetic disorders with numerous manifestations and wide phenotypic variability. The complex nature of these disorders requires coordinated multidisciplinary care.