November 19, 2013: Schwannomatosis: More than just NF1 and NF2
November 19, 2013
Neurofibromatoses are a diverse group of genetic conditions characterized by predisposition to tumors of the nerve sheath. Neurofibromatosis 2 (NF2) is characterized by bilateral acoustic neuromas and peripheral schwannomas, meningiomas, ependymomas, cataracts and epiretinal membranes. A similar but clinically and molecularly distinct condition characterized by multiple peripheral schwannomas without acoustic neuromas has been increasingly defined (1). Termed schwannomatosis, this condition is defined by the presence of two or more non-intradermal schwannomas and lack of vestibular nerve tumor by imaging performed after the age of 30 years (2). Emerging data suggests that these patients do not harbor the same propensity of intracranial neoplasms, though meningiomas have been described. Chronic pain is frequent but life expectancy is normal.
- Lu-Emerson C, Plotkin SR. The neurofibromatosis. Part 2: NF2 and schwannomatosis. Rev Neurol Dis 2009;6:E81-86.
- MacCollin M, Chiocca EA, Evans DG, et al. Diagnostic criteria for schwannomatosis. Neurology 2005;64:1838-1845.
Submitted by Roy Strowd, MD, Resident Physician, Wake Forest School of Medicine, Winston Salem, NC.
Dr. Strowd is a member of the Resident and Fellow Section of Neurology.