National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Schwannomatosis

Información en español


Other Names:
Neurilemmomatosis congenital cutaneous; Congenital cutaneous neurilemmomatosis; Neurofibromatosis type 3; Neurilemmomatosis congenital cutaneous; Congenital cutaneous neurilemmomatosis; Neurofibromatosis type 3; NF3 See More
Categories:
This disease is grouped under:
Schwannomatosis is a rare form of 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.[1][2]
Last updated: 7/26/2015
Signs and symptoms of the schwannomatosis often develop during adulthood between ages 25 and 30. Affected people generally have multiple schwannomas, which are benign tumors of the nervous system. In schwannomatosis, these tumors can grow along any nerve in the body, although they are less common on the vestibular nerve (vestibular schwannomas, also known as acoustic neuromas). People with vestibular schwannomas, especially those with tumors affecting the vestibular nerve on both sides of the head (bilateral), may have neurofibromatosis type 2 instead.[1][2]

The signs and symptoms associated with schwannomatosis vary based on the size and location of the schwannomas. The most common symptom is chronic pain, which can develop as a growing schwannoma presses on nerves or surrounding tissues. Some people may develop a mass if the schwannomas is located just beneath the skin. Others can experience neurological symptoms such as numbness; tingling; and/or weakness in the fingers and toes.[1][2]

Last updated: 7/26/2015

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Showing of 9 |
Medical Terms Other Names
Learn More:
HPO ID
Percent of people who have these symptoms is not available through HPO
Abnormality of the skin 0000951
Abnormality of the vertebral column
Abnormal spine
Abnormal vertebral column
Abnormality of the spine
[ more ] 		0000925
Autosomal dominant inheritance 0000006
Incomplete penetrance 0003829
Meningioma 0002858
Schwannoma 0100008
Somatic mutation 0001428
Spinal cord tumor
Tumor of the spinal cord
0010302
Variable expressivity 0003828
Showing of 9 |
Last updated: 7/1/2020
Some cases of schwannomatosis are caused by changes (mutations) in the SMARCB1 or LZTR1 genes.[2] SMARCB1 and LZTR1 are tumor suppressor genes, which means that they encode a protein that stops cells from growing and dividing too rapidly or in an uncontrolled way. Mutations in these genes result in abnormal proteins that are unable to carry out their normal roles. This contributes to the development of the many different types of tumors found in schwannomatosis.

When schwannomatosis is caused by a mutation in SMARCB1 or LZTR1, the affected person is typically born with one mutated copy of the gene in each cell and is, therefore, genetically predisposed to develop the tumors associated with the condition. For a tumor to form, two copies of the gene must be altered. The mutation in the second copy of the gene is considered a somatic mutation because it occurs during a person's lifetime and is not inherited.

In affected people without a mutation in SMARCB1 or LZTR1, the underlying cause of the condition is unknown.
Last updated: 7/26/2015
Approximately 15% percent of all schwannomatosis cases are thought to be inherited.[1] In these cases, the condition is thought to be inherited in an autosomal dominant manner with highly variable expressivity and reduced penetrance.[3] This means that a person only needs a change (mutation) in one copy of the responsible gene in each cell to have a genetic predisposition to the tumors associated with schwannomatosis. In some cases, an affected person inherits the mutation from an affected parent. Other cases may result from new (de novo) mutations in the gene. These cases occur in people with no history of the disorder in their family. People with an inherited form of schwannomatosis have a 50% chance with each pregnancy of passing the condition on to the next generation.
Last updated: 7/26/2015
A diagnosis of schwannomatosis is often suspected based on the presence of characteristic signs and symptoms, especially if there are other family members with the condition. Additional testing can then be ordered to further support the diagnosis and rule out other conditions with similar features (namely, neurofibromatosis type 2). This may include:[2]
  • Tumor pathology confirming that the growths are, in fact, schwannomas
  • Imaging studies, such as an MRI examining the vestibular nerve. It is important to rule out the presence of bilateral (affecting both sides) vestibular schwannomas which would be suggestive of neurofibromatosis type 2 rather than schwannomatosis
  • Genetic testing for a change (mutation) in the SMARCB1 or LZTR1 genes. Unfortunately, genetic testing is not informative in all people affected by schwannomatosis.
Last updated: 7/26/2015

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Treatment for schwannomatosis is based on the signs and symptoms present in each person. For example, pain is one of the most common symptoms of the condition. Treatment with medications such as gabapentin or pregabalin and the use of short-acting opioids and/or nonsteroidal anti-inflammatories for pain can be successful for many patients. If pain cannot be managed with other means or if the schwannomas are causing other symptoms, they can be surgically removed. However this treatment is often used as a last resort because surgery may put patients at risk of further neurologic problems.[2]
Last updated: 7/26/2015

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • The Research Portfolio Online Reporting Tool (RePORT) provides access to reports, data, and analyses of research activities at the National Institutes of Health (NIH), including information on NIH expenditures and the results of NIH-supported research. Although these projects may not conduct studies on humans, you may want to contact the investigators to learn more. To search for studies, enter the disease name in the "Text Search" box. Then click "Submit Query".

Patient Registry

  • A registry supports research by collecting of information about patients that share something in common, such as being diagnosed with Schwannomatosis. The type of data collected can vary from registry to registry and is based on the goals and purpose of that registry. Some registries collect contact information while others collect more detailed medical information. Learn more about registries.

    Registries for Schwannomatosis:
    NF Registry
    International Schwannomatosis Database
     

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • Genetics Home Reference (GHR) contains information on Schwannomatosis. This website is maintained by the National Library of Medicine.
  • 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.

In-Depth 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.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

  • I have a segmental neuromatosis/schwannomatosis. The last 10 years the pain has been constant and gradually becoming worse. The last six moths have been dreadful. I would like to know what treatments work for others with the same condition. I have read some research work, but it is never anything like what I have got. I believe that surgery can be done? How successful is this? What medication works the best? See answer


  1. Neurofibromatosis Fact Sheet. National Institute of Neurological Disorders and Stroke. February 2015; http://www.ninds.nih.gov/disorders/neurofibromatosis/detail_neurofibromatosis.htm#279853162.
  2. Kaleb Yohay, MD; Amanda Bergner, MS, CGC. Schwannomatosis. UpToDate. January 2015; Accessed 7/26/2015.
  3. Evans DG. Neurofibromatosis 2. GeneReviews. Updated March 15, 2018; https://www.ncbi.nlm.nih.gov/books/NBK1201/.