- Kaleb Yohay, MD
Kaleb Yohay, MD
- Co-Director, Comprehensive Neurofibromatosis Center
- Department of Neurology
- Division of Child Neurology
- NYU School of Medicine
- Amanda Bergner, MS, CGC
Amanda Bergner, MS, CGC
- Associate Professor of Genetics and Development
- Columbia University
- Section Editors
- Helen V Firth, DM, FRCP, DCH
Helen V Firth, DM, FRCP, DCH
- Section Editor — Genetics
- Consultant Clinical Geneticist
- Addenbrooke's Hospital, Cambridge, UK
- Jeremy M Shefner, MD, PhD
Jeremy M Shefner, MD, PhD
- Section Editor — Neuromuscular Disease
- Professor and Chair of Neurology, Barrow Neurological Institute
- Professor of Neurology, University of Arizona, Phoenix
- Clinical Professor of Neurology, Creighton University
- Patrick Y Wen, MD
Patrick Y Wen, MD
- Section Editor — Neurooncology
- Professor of Neurology
- Harvard Medical School
Schwannomatosis is the third major form of neurofibromatosis, clinically and genetically distinct from neurofibromatosis type 1 (NF1) and neurofibromatosis type 2 (NF2), characterized by multiple noncutaneous schwannomas in the absence of bilateral vestibular schwannomas.
Patients typically present in adulthood with multiple schwannomas and pain, and approximately 20 percent of patients have a family history of schwannomas or schwannomatosis. Inactivating mutations in the tumor suppressor genes SMARCB1 and LZTR1 are thought to be responsible for a majority of cases. Treatment is symptomatic, focused primarily on pain management.
The epidemiology, pathology, clinical manifestation, diagnosis, and treatment of schwannomatosis will be reviewed here. The following related topics are reviewed separately:
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- PATHOLOGY AND PATHOGENESIS
- CLINICAL FEATURES
- Clinical presentation
- Other tumors
- Diagnostic criteria
- Tumor pathology
- DIFFERENTIAL DIAGNOSIS
- Pain management
- - Pharmacologic therapy
- - Nonpharmacologic therapy
- GENETIC TESTING
- COUNSELING AND PROGNOSIS
- SUMMARY AND RECOMMENDATIONS