Neurofibromatosis Quiz
Reviewed By:
Benjamin Kummer, MD (Neurology)
Dr Kummer is Assistant Professor of Neurology at the Icahn School of Medicine at Mount Sinai (ISMMS), with joint appointment in Digital and Technology Partners (DTP) at the Mount Sinai Health System (MSHS) as Director of Clinical Informatics in Neurology. As a triple-board certified practicing stroke neurologist and informaticist, he has successfully improved clinical operations at the point of care by acting as a central liaison between clinical neurology faculty and DTP teams to implement targeted EHR configuration changes and workflows, as well as providing subject matter expertise on health information technology projects across MSHS. | Dr Kummer also has several years’ experience building and implementing several informatics tools, presenting scientific posters, and generating a body of peer-reviewed work in “clinical neuro-informatics” – i.e., the intersection of clinical neurology, digital health, and informatics – much of which is centered on digital/tele-health, artificial intelligence, and machine learning. He has spearheaded the Clinical Neuro-Informatics Center in the Department of Neurology at ISMMS, a new research institute that seeks to establish the field of clinical neuro-informatics and disseminate knowledge to the neurological community on the effects and benefits of clinical informatics tools at the point of care.
Yoshinori Abe, MD (Internal Medicine)
Dr. Abe graduated from The University of Tokyo School of Medicine in 2015. He completed his residency at the Tokyo Metropolitan Health and Longevity Medical Center. He co-founded Ubie, Inc. in May 2017, where he currently serves as CEO & product owner at Ubie. Since December 2019, he has been a member of the Special Committee for Activation of Research in Emergency AI of the Japanese Association for Acute Medicine. | | Dr. Abe has been elected in the 2020 Forbes 30 Under 30 Asia Healthcare & Science category.
Content updated on Mar 31, 2024
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With an easy 3-min questionnaire , Ubie's AI-powered system will generate a free report on possible causes.
Questions are customized to your situation and symptoms, including the following personal information:
Biological Sex - helps us provide relevant suggestions for male vs. female conditions.
Age - adjusts our guidance based on any age-related health factors.
History - considers past illnesses, surgeries, family history, and lifestyle choices.
Your symptoms
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Your report
Your personal report will tell you
✔︎ When to see a doctor
✔︎ What causes your symptoms
✔︎ Treatment information etc.
My body is jerking
Yellowish skin lumps
Scars or marks from the rash/wound
Black, blue, or brown spots on the skin or elsewhere
Twitching
Moles or spots of different colors on skin or lining of the mouth
Hard fingertips
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What is Neurofibromatosis?
Neurofibromatosis is a disorder that causes tumors to grow on nerves, the spinal cord, or the brain as well as areas outside the nervous system. The tumors are usually benign, but can occasionally become cancerous. There are 3 kinds of neurofibromatosis with different symptoms, and they are usually diagnosed in childhood or early adulthood. The disorder is caused by a gene mutation which is most often inherited, or can arise randomly during life. In addition to these tumors,
Typical Symptoms of Neurofibromatosis
Many lumps appearing on the skin
Red or yellow skin lumps
Black/blue/brown spots or moles, on the skin and lining of the mouth
Seizure
Skin hardening
Lumps under the skin
Headache
Dizziness
Doctor's Diagnostic Questionson Neurofibromatosis
Your doctor may ask these questions to check for this disease:
Do you have multiple lumps on your body?
Do you have yellow or red lumps/bumps on your skin?
Are there black, blue, or brown spots on your skin? (Including moles)
Have you had a seizure?
Do you have skin hardening?
Treatmentof Neurofibromatosis
There is no cure for neurofibromatosis. However, the symptoms of neurofibromatosis can be managed. Tumors can be targeted with surgery, radiotherapy, and chemotherapy, while children's developmental progress is closely monitored.
Think you might have
Neurofibromatosis
View the symptoms of Neurofibromatosis
Diseases related to Neurofibromatosis
References
Tamura R. Current Understanding of Neurofibromatosis Type 1, 2, and Schwannomatosis. Int J Mol Sci. 2021 May 29;22(11):5850. doi: 10.3390/ijms22115850. PMID: 34072574; PMCID: PMC8198724.
https://www.mdpi.com/1422-0067/22/11/5850
Kresak JL, Walsh M. Neurofibromatosis: A Review of NF1, NF2, and Schwannomatosis. J Pediatr Genet. 2016 Jun;5(2):98-104. doi: 10.1055/s-0036-1579766. Epub 2016 Mar 9. PMID: 27617150; PMCID: PMC4918700.
https://www.thieme-connect.com/DOI/DOI?10.1055/s-0036-1579766
Korf BR. Neurofibromatosis. Handb Clin Neurol. 2013;111:333-40. doi: 10.1016/B978-0-444-52891-9.00039-7. PMID: 23622184.
https://www.sciencedirect.com/science/article/abs/pii/B9780444528919000397?via%3Dihub
User Testimonials
Reviewed By:
Benjamin Kummer, MD (Neurology)
Dr Kummer is Assistant Professor of Neurology at the Icahn School of Medicine at Mount Sinai (ISMMS), with joint appointment in Digital and Technology Partners (DTP) at the Mount Sinai Health System (MSHS) as Director of Clinical Informatics in Neurology. As a triple-board certified practicing stroke neurologist and informaticist, he has successfully improved clinical operations at the point of care by acting as a central liaison between clinical neurology faculty and DTP teams to implement targeted EHR configuration changes and workflows, as well as providing subject matter expertise on health information technology projects across MSHS. | Dr Kummer also has several years’ experience building and implementing several informatics tools, presenting scientific posters, and generating a body of peer-reviewed work in “clinical neuro-informatics” – i.e., the intersection of clinical neurology, digital health, and informatics – much of which is centered on digital/tele-health, artificial intelligence, and machine learning. He has spearheaded the Clinical Neuro-Informatics Center in the Department of Neurology at ISMMS, a new research institute that seeks to establish the field of clinical neuro-informatics and disseminate knowledge to the neurological community on the effects and benefits of clinical informatics tools at the point of care.
Yoshinori Abe, MD (Internal Medicine)
Dr. Abe graduated from The University of Tokyo School of Medicine in 2015. He completed his residency at the Tokyo Metropolitan Health and Longevity Medical Center. He co-founded Ubie, Inc. in May 2017, where he currently serves as CEO & product owner at Ubie. Since December 2019, he has been a member of the Special Committee for Activation of Research in Emergency AI of the Japanese Association for Acute Medicine. | | Dr. Abe has been elected in the 2020 Forbes 30 Under 30 Asia Healthcare & Science category.
Think you might have
Neurofibromatosis
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Cardiothoracic Surgery, Vascular Surgery
Cardiothoracic and Vascular Surgery Associates