pediatrics
Neurofibromatosis
Key Points
There are 3 types of neurofibromatosis (NF): NF1, NF2-related schwannomatosis (previously NF2), and non-NF2 schwannomatosis (previously schwannomatosis), caused by gene mutations. NF1 typically causes cutaneous, neurologic, and bone abnormalities but can affect almost any part of the body. NF2 causes bilateral vestibular schwannomas. Schwannomatosis causes multiple nonintradermal schwannomas; it does not cause vestibular schwannomas. Diagnosis is made using clinical criteria; neuroimaging is done if patients have neurologic abnormalities. Neurofibromas that cause severe symptoms may be removed surgically. Malignant tumors may require chemotherapy. Vestibular schwannomas may be treated withbevacizumab(a vascular endothelial growth factor inhibitor) in selected cases. Non-NF2 schwannomatosis requires symptomatic treatment with long-pain management. Genetic testing is recommended for patients who are suspected to have neurofibromatosis but who do not fulfill clinical criteria. 