Neurofibromatosis is a genetic disorder characterized by fibrous tumors that affect the development and function of the nervous system. There are three known types of neurofibromatosis: neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2), and schwannomatosis.
NF1 is due to a mutation in the NF1 gene on chromosome 17, and generally affects the skin and extremities. NF1 causes cutaneous neurofibromas (benign tumors that grow from the nerve sheath), café-au-lait spots (flat patches with milky-coffee color), and Lisch nodules (small tan colored bumps). NF2 is caused by a mutation in the NF2 gene on chromosome 22, and is associated with bilateral acoustic neuromas that can cause tinnitus, and bilateral gradual loss of hearing. NF2 is also associated with multiple meningiomas in the brain and spinal cord.
- "Robbins Basic Pathology" Elsevier (2017)
- "Harrison's Principles of Internal Medicine, Twentieth Edition (Vol.1 & Vol.2)" McGraw-Hill Education / Medical (2018)
- "Pathophysiology of Disease: An Introduction to Clinical Medicine 8E" McGraw-Hill Education / Medical (2018)
- "CURRENT Medical Diagnosis and Treatment 2020" McGraw-Hill Education / Medical (2019)
- "Neurofibromatosis" Orthopaedics and Trauma (2015)
- "Review Article : Molecular and Cellular Mechanisms Underlying the Cognitive Deficits Associated With Neurofibromatosis 1" Journal of Child Neurology (2002)
- "The Neurofibromatosis 2 Tumor Suppressor Gene Product, Merlin, Regulates Human Meningioma Cell Growth by Signaling through YAP" Neoplasia (2008)