Other Names for this Disease
- Neurilemmomatosis congenital cutaneous
- Congenital cutaneous neurilemmomatosis
- Neurofibromatosis type 3
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neurofibromatosis that is primarily characterized by multiple schwannomas (benign tumors of the nervous system) in the absence of bilateral (affecting both sides) vestibular schwannomas. Signs and symptoms of the condition vary based on the size, location and number of schwannomas but may include pain; numbness; tingling; and/or weakness in the fingers and toes. Inherited forms of the disorder account for only 15 percent of all cases. In some of these families, schwannomatosis is caused by changes (mutations) in the SMARCB1 or LZTR1 genes; in other cases, the exact underlying cause is unknown. When inherited, the condition is passed down in an autosomal dominant manner with highly variable expressivity and reduced penetrance. Treatment is based on the signs and symptoms present in each person but may include medications and/or surgery.Schwannomatosis is a rare form of
Last updated: 7/26/2015
- Neurofibromatosis Fact Sheet. National Institute of Neurological Disorders and Stroke. February 2015; http://www.ninds.nih.gov/disorders/neurofibromatosis/detail_neurofibromatosis.htm#279853162.
- Kaleb Yohay, MD; Amanda Bergner, MS, CGC. Schwannomatosis. UpToDate. January 2015; Accessed 7/26/2015.
- MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
- The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
- The Children's Tumor Foundation provides information about schwannomatosis. Click on the above link to access this information.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Schwannomatosis. Click on the link to view a sample search on this topic.