Materiały źródłowe

• #1 Schwannomatosis: What It Is, Symptoms & Treatment

  https://my.clevelandclinic.org/health/diseases/schwannomatosis

  Schwannomatosis usually leads to chronic pain that typically starts in early adulthood. […] The most common symptom of schwannomatosis is pain. This happens when schwannoma tumors press on your nerves and surrounding tissue. […] Other symptoms of schwannomatosis vary based on the tumor location. These may include numbness or a tingling sensation, muscle weakness or loss of muscle function, and lumps or bumps (where tumors form) under your skin. […] Studies show that symptoms of schwannomatosis usually start after age 20 and before age 40. But symptoms may appear at any age. […] The most identifiable symptom of schwannomatosis is chronic pain. It can be challenging to live with pain, especially if it’s severe. Pain can impact your mental and physical health. […] Treatment is available to help you manage symptoms. Many people see symptom improvement after taking medications. Others might need surgery to remove the tumors. There’s a risk that tumors could grow back after removal.

• #2 Schwannomatosis: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/schwannomatosis/

  Schwannomatosis is a disorder characterized by multiple noncancerous (benign) tumors called schwannomas, which are a type of tumor that grows on nerves. The signs and symptoms of schwannomatosis usually appear in early adulthood. The most common symptom is long-lasting (chronic) pain, which can affect any part of the body. In some cases, the pain is felt in areas where there are no known tumors. The pain associated with this condition ranges from mild to severe and can be difficult to manage. Other signs and symptoms that can occur with schwannomatosis depend on the location of the tumors and which nerves are affected. These problems include numbness, weakness, tingling, and headaches. The life expectancy of people with schwannomatosis is normal. […] Schwannomatosis accounts for only a small percentage of all schwannoma tumors. Most schwannomas are isolated, meaning that an individual develops only a single tumor. It is rarer to have multiple schwannomas, as occurs in schwannomatosis.

• #3 Schwannomatosis – Children’s Tumor Foundation

  https://www.ctf.org/swn/

  The first signs of schwannomatosis usually occur between the ages of 20 and 40, though they can begin at any age. The most common presenting symptom is pain, which can occur anywhere in the body and may or may not be in the area of a schwannoma. The intensity and frequency of pain varies significantly among individuals who are affected and, in some cases, the size of the tumor does not necessarily relate to the intensity level of the pain. While most people with schwannomatosis experience some degree of pain that requires medical management, a small number of people have only mild pain. […] Some people with schwannomatosis develop many tumors throughout their body, while others may have only one or two tumors during their lifetime. In addition to schwannomas, another type of benign tumor, called meningiomas, may also occur, although much less frequently. In addition, a small subset of individuals develop tumors along the hearing/balance nerves, called vestibular schwannomas (or VS). Although the most common sign of schwannomatosis is pain, the tumors in schwannomatosis may occasionally press on nerves, causing numbness or tingling, muscle weakness, or loss of function. […] Because pain is often the main and presenting symptom, it may take several years before schwannomatosis is diagnosed and the source of the pain is identified. The degree of pain and tumors vary widely and some symptoms of schwannomatosis are shared with other conditions.

• #4 Clinical Features of Schwannomatosis: A Retrospective Analysis of 87 Patients

  https://pmc.ncbi.nlm.nih.gov/articles/PMC3481897/

  The spectrum of clinical findings in a cohort of patients meeting established criteria for schwannomatosis is described. […] The most common presentation was pain unassociated with a mass (46%). […] Chronic pain was the most common symptom (68%) and usually persisted despite aggressive surgical and medical management. […] Severe pain is difficult to treat in these patients and often associated with anxiety and depression. […] The most common symptom reported by schwannomatosis patients was chronic pain (68%, 59 of 87 patients), which included both local and multifocal or diffuse pain. […] Most patients (62%, 54 of 87) reported the use of medications for chronic pain at some point in their care. […] Chronic pain remains the hallmark of schwannomatosis. […] Depression and anxiety are also common in schwannomatosis patients, with 39% of women and 17% of men reporting a history of these mood disorders.

• #5 Symptoms & Features – Neurofibromatosis Program

  https://www.uab.edu/medicine/nfprogram/learn-about-nf/schwannomatosis/symptoms-features

  The most common symptom of schwannomatosis is usually chronic pain which can occur in any part of the body caused by tumors called schwannomas pressing on nerves. Although neurological symptoms can also occur, many people with schwannomatosis experience pain as the only symptom for several years before the source of the pain is identified. For this reason, the condition is often difficult to diagnose. […] People with schwannomatosis may also experience neurological and other symptoms including: Numbness or tingling, Weakness, including facial weakness, Bowel dysfunction or difficulty urinating, Vision changes, Headaches. […] The main clinical feature of schwannomatosis is the development of schwannomas, tumors that grow on nerves. These tumors develop from Schwann cells, which support and protect nerve cells and serve as insulation needed to conduct information. While schwannomas are the same type of tumors that develop in people with NF2, schwannomatosis lacks many of the clinical features common in people with NF2. An important distinction is that individuals with schwannomatosis dont develop tumors on the acoustic nerve that cause hearing loss in people with NF2. Also, other types of tumors that can occur in people with NF2 (including meningiomas, ependymomas, and astrocytomas) dont occur in those with schwannomatosis, with rare exceptions. Features of NF1, such as learning problems and caf-au-lait spots, are also not present in people with schwannomatosis. The condition also doesn’t produce the visible skin tumors that occur in people with NF1 and some individuals with NF2.

• #6 Symptoms Of Schwannomatosis? – Klarity Health Library

  https://my.klarity.health/symptoms-of-schwannomatosis/

  The main symptom of Schwannomatosis is chronic pain, which can be classified as aching, shooting, or stabbing and ranges in severity from mild to severe. The position of the schwannoma along the nerves determines where the pain is felt; back discomfort is caused by the involvement of the spinal nerves. Aching, tingling, scorching, or stabbing sensations are examples of the nature of pain, which is indicative of underlying nerve irritation or compression. […] Growing tumours have the potential to pressure nearby nerves, resulting in pain, tingling, weakening, or numbness. […] In schwannomatosis, schwannomas can compress nerves, resulting in numbness or weakening in the afflicted areas, which can impact motor function and sense perception. Symptoms such as incontinence or constipation may arise from compression near the nerves that regulate bladder or bowel function. The quality of life is significantly impacted by these neurological symptoms, which might include paralysis and bladder or bowel problems. […] The treatment goals for schwannomatosis aim to alleviate symptoms, minimise tumour-related consequences, and improve the patient’s quality of life. Pain management is a key aspect of treatment, with various options available.

• #7 C-Fiber Loss as a Possible Cause of Neuropathic Pain in Schwannomatosis

  https://www.mdpi.com/1422-0067/21/10/3569

  Schwannomatosis is the third form of neurofibromatosis and characterized by the occurrence of multiple schwannomas. The most prominent symptom is chronic pain. […] The most common symptom of schwannomatosis is pain, reported by approximately 70% of patients; either as local, multifocal, or diffuse pain. […] In the present study, we analyzed 20 schwannomatosis patients by means of neurophysiological, histological, and imaging methods to elucidate the morphological and neurophysiological correlates of schwannomatosis-associated pain. […] The questionnaires indicated neuropathic symptoms with significant impact on quality of life. […] Our study therefore indicates the presence of small-fiber neuropathy, predominantly of unmyelinated C-fibers. […] Together these methods may facilitate differential diagnosis of schwannomatosis.

• #8 Schwannomatosis?

  https://www.anausa.org/smf/index.php?topic=4131.0

  Anyone with schwannomatosis experiences some degree of pain, but the intensity varies. A small number of people have such mild pain that they are never diagnosed with the disorder. Most people have significant pain, which can be managed with medications or surgery. In some extreme cases, pain will be so severe and disabling it will keep people from working or leaving the house. […] There is no currently accepted medical treatment or drug for schwannomatosis, but surgical management is often effective. When tumors are completely removed pain usually subsides, although it may recur if new tumors form. When surgery isnt possible, ongoing monitoring and management of pain in a multidisciplinary pain clinic is advisable.

• #9 Neurofibromatosis & SchwannomatosisSecond Opinion IconGroup 9Second Opinion IconGroup 49

  https://www.barrowneuro.org/condition/neurofibromatosis-schwannomatosis/

  Some of the symptoms you or someone you know might experience if you have schwannomatosis can include: Chronic pain anywhere in the body: Due to the tumors on your nerves, many people with schwannomatosis experience chronic pain. […] Numbness or weakness: In areas where the tumors are pressing on nerves, you can experience numbness, tingling, weakness in your fingers and toes, or even loss of muscle function. Around a third of people with schwannomatosis have tumors limited to a single part of their body, such as an arm, leg, or a segment of the spine. […] Schwannomatosis symptoms generally manifest in adulthood, most often after age 30. […] Several symptoms of schwannomatosis overlap with those of NF2, as they result from slow-growing schwannomas of the cranial, spinal, and peripheral nerves (and, in some cases, meningiomas in the brain or spinal cord.)

• #10 Schwannomatosis – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/schwannomatosis/symptoms-causes/syc-20567542

  Schwannomatosis symptoms depend on the type. […] Symptoms of NF2-related schwannomatosis (NF2) usually result from slow-growing tumors in both ears, known as acoustic neuromas or vestibular schwannomas. The tumors are benign, which means that they are not cancerous. […] Symptoms tend to appear during the late teen and early adult years, and can vary. Symptoms may include: Gradual hearing loss. Ringing in the ears. Poor balance. Headaches. […] Symptoms of these tumors can include: Numbness and weakness in the arms or legs. Pain. Poor balance. Facial drop. Changes in vision or cataracts. Seizures. Headaches. […] Symptoms usually appear between ages 25 and 30. […] Symptoms of SMARCB1- and LZTR1-related schwannomatosis include: Long-lasting pain, which can occur anywhere in the body and can be disabling. Numbness or weakness in various parts of the body. Loss of muscle, known as atrophy. […] The pain caused by this type of schwannomatosis can be weakening. People with this type may need surgery or management by a pain specialist.

• #11 Schwannomatosis | UM Health-Sparrow

  https://www.uofmhealthsparrow.org/departments-conditions/conditions/schwannomatosis

  Schwannomatosis symptoms depend on the type. […] Symptoms of NF2-related schwannomatosis (NF2) usually result from slow-growing tumors in both ears, known as acoustic neuromas or vestibular schwannomas. The tumors are benign, which means that they are not cancerous. […] Symptoms tend to appear during the late teen and early adult years, and can vary. Symptoms may include: Gradual hearing loss. Ringing in the ears. Poor balance. Headaches. […] Symptoms of these tumors can include: Numbness and weakness in the arms or legs. Pain. Poor balance. Facial drop. Changes in vision or cataracts. Seizures. Headaches. […] Symptoms usually appear between ages 25 and 30. […] Symptoms of SMARCB1- and LZTR1-related schwannomatosis include: Long-lasting pain, which can occur anywhere in the body and can be disabling. Numbness or weakness in various parts of the body. Loss of muscle, known as atrophy. […] The pain caused by this type of schwannomatosis can be weakening.

• #12 Schwannomatosis – Dr. Paul C. McCormick

  https://www.paulcmccormick.com/condition/schwannomatosis/

  Schwannomatosis is a disease that causes schwannomas (nerve tumors). Schwannomas grow on the insulating sheaths around peripheral nerves. These tumors can grow on nerves throughout the body, including on spinal nerve roots. Schwannomatosis is part of a family of diseases called neurofibromatoses. The characteristic symptom of schwannomatosis is the growth of nerve tumors called schwannomas throughout the body. Symptoms of schwannomatosis are very similar to those of the related tumor disease NF2. However, NF2 commonly involves the eighth cranial nerve, which controls balance and hearing, whereas schwannomatosis does not. Schwannomatosis can reduce quality of life for some patients, however. Without treatment, the nerve tumors associated with this disease can cause nerve pain and other symptoms. As spinal schwannomas grow and put pressure on the spinal nerves, they can cause symptoms including changes in sensation (pain, numbness, pins and needles), changes in movement (clumsiness, trouble walking), or trouble controlling bladder and bowel function. Exact symptoms vary depending on the tumor’s size and location, and the degree of pain can vary from mild to extreme. Most spinal tumors can be fully removed. […] The distinction between schwannomatosis and NF2 is not minor: the diseases are managed differently and carry different outlooks. For instance, schwannomatosis is associated with an average life expectancy, while NF2 is associated with a shorter-than-average life expectancy.

• #13 Schwannomatosis Diagnosis & Treatment – NYC | Columbia Neurosurgery in New York City

  https://www.neurosurgery.columbia.edu/patient-care/conditions/schwannomatosis

  Schwannomatosis is a disease that causes schwannomas (nerve tumors). Schwannomas grow on the insulating sheaths around peripheral nerves. These tumors can grow on nerves throughout the body, including on spinal nerve roots. […] The characteristic symptom of schwannomatosis is the growth of nerve tumors called schwannomas throughout the body. Symptoms of schwannomatosis are very similar to those of the related tumor disease NF2. However, NF2 commonly involves the eighth cranial nerve, which controls balance and hearing, whereas schwannomatosis does not. […] Schwannomatosis can reduce quality of life for some patients, however. Without treatment, the nerve tumors associated with this disease can cause nerve pain and other symptoms. […] As spinal schwannomas grow and put pressure on the spinal nerves, they can cause symptoms including changes in sensation (pain, numbness, pins and needles), changes in movement (clumsiness, trouble walking), or trouble controlling bladder and bowel function. Exact symptoms vary depending on the tumors size and location, and the degree of pain can vary from mild to extreme. Most spinal tumors can be fully removed.

• #14 Schwannomatosis – Wikipedia

  https://en.wikipedia.org/wiki/Schwannomatosis

  Schwannomas are mostly benign tumors that commonly occur in individuals with NF2 and schwannomatosis (sometimes called neurofibromatosis type III). […] Schwannomas on sensory nerve axons cause chronic severe pain. […] Many of the symptoms of schwannomatosis overlap with NF2. […] Multiple schwannomas manifest throughout the body or in isolated regions. […] Chronic pain, and sometimes numbness, tingling and weakness. […] About 1/3 of patients have segmental schwannomatosis, which means that the schwannomas are limited to a single part of the body, such as an arm, a leg or the spine. […] Symptoms are sometimes brought on by hormonal changes such as puberty and pregnancy.

• #15 Schwannomatosis patient who was followed up for fifteen years: A case report

  https://www.wjgnet.com/2307-8960/full/v10/i20/6981.htm

  Schwannomatosis is a rare disease characterized by multiple schwannomas of the whole body. Although benign, schwannomatosis that occurs in important areas of the body, such as the brain and spinal canal, can cause considerable disability and mortality. […] The main clinical manifestations of schwannomatosis are chronic pain, the occurrence of masses, and neurological symptoms in the corresponding area of innervation when the tumor compresses the nerve. Pain is usually the first symptom and is the most challenging symptom for the treatment of this disease. Additionally, chronic pain and recurrence of the tumor lead to the need for multiple surgical procedures during the course of the patient’s life, and these are the aspects that can lead to symptoms of depression and anxiety, which occur in approximately 17%-39% of patients.

• #16 Schwannomatosis patient who was followed up for fifteen years: A case report

  https://www.wjgnet.com/2307-8960/full/v10/i20/6981.htm

  The patient developed a progressive decrease in the muscle strength of both lower limbs with urinary and fecal dysfunction, and gradual paralysis began 4 years before this report. […] The patient was still alive; he had no new symptoms when compared to the previous follow-up exam, but his overall quality of life was poor. […] Long-term spinal nerve compression led to paralysis of both lower limbs and a severe reduction in his quality of life.

• #17 Surgical treatment of common peroneal neuropathy in schwannomatosis: illustrative cases in: Journal of Neurosurgery: Case Lessons Volume 1 Issue 26 (2021) Journals

  https://thejns.org/caselessons/view/journals/j-neurosurg-case-lessons/1/26/article-CASE21176.xml

  Neurofibromatosis syndromes such as neurofibromatosis type 1, neurofibromatosis type 2, and schwannomatosis often result in painful symptoms related to tumor burden. […] Painful symptoms classically associated with common points of peripheral nerve entrapment, such as common peroneal neuropathy at the fibular tunnel, may present in patients both with and without focal tumor involvement. […] For patients with schwannomatosis, pain is the most common presenting symptom leading to diagnosis and is a leading cause of disability, and nearly 70% of patients report suffering from chronic pain. […] Chronic pain in schwannomatosis is often multifactorial but dominated by neuropathic pain related to schwannomas, with the overall tumor burden significantly associated with the severity of patient-reported pain.

• #18 Surgical treatment of common peroneal neuropathy in schwannomatosis: illustrative cases in: Journal of Neurosurgery: Case Lessons Volume 1 Issue 26 (2021) Journals

  https://thejns.org/caselessons/view/journals/j-neurosurg-case-lessons/1/26/article-CASE21176.xml

  However, despite the relationship of tumor burden to overall pain and the frequent correlation of specific tumors to localizing painful symptoms, focal tumor burden does not always correlate with a patients specific painful symptoms. […] Here, we present cases detailing the surgical treatment of two patients with an established diagnosis of schwannomatosis and painful common peroneal neuropathy due to entrapment at the fibular tunnel. […] The cases illustrate examples of how schwannomatosis may lead to an entrapment neuropathy due to either a small, focal tumor within the nerve or mild thickening of the nerve at a point of nerve constriction (such as the fibular tunnel), leading to painful neuropathy. […] Common peroneal neuropathy is the most common mononeuropathy of the lower extremity.

• #19 Schwannomatosis – Neurofibromatosis Midwest

  https://www.nfmidwest.org/learn-about-nf/schwannomatosis/

  As schwannomatosis is a recently recognized disorder, the full spectrum of symptoms is not yet known. For some people, the first symptom of schwannomatosis is pain. This pain may be in any part of the body and may become very debilitating. Schwannomatosis may also cause numbness, tingling, or weakness due to nerve or spinal cord compression. […] Other symptoms (depending on the location of the tumor) may include: Difficulty with urinating or bowel dysfunction, Facial weakness, Headaches, Lumps or swollen areas where tumors form under the skin, Numbness, Vision changes, Weakness. […] Unlike NF2, people with schwannomatosis do not develop vestibular tumors and do not go deaf. They also do not typically develop any other kinds of tumors associated with neurofibromatosis (for example, meningiomas, ependymomas or astrocytomas) and do not have learning disabilities. The schwannomas that form as part of schwannomatosis are benign, with very rare exceptions.

• #20 NF2-Related Schwannomatosis – Children’s Tumor Foundation

  https://www.ctf.org/nf2-swn/

  NF2-related schwannomatosis is much less common than NF1, affecting about 1 in 25,000 people worldwide. The condition is characterized by the development of benign tumors, called vestibular schwannomas (formerly called acoustic neuromas), on the nerve that carries sound and balance information from the inner ear to the brain (the eighth cranial nerve). These tumors affect both ears, often leading to partial or complete hearing loss. […] People with NF2-SWN may also develop other types of benign brain or spinal tumors. The condition can also cause the development of cataracts or other eye findings, potentially compromising vision. Most people develop symptoms in the late teen and early adult years, although about 10% of people develop symptoms during late childhood. […] The most common first symptoms in NF2-related schwannomatosis, or NF2-SWN, are hearing and balance problems. These symptoms are due to benign tumors on the nerves leading to the ears. Individuals with NF2-SWN may experience some, but not all, of the following: Ringing in the ears (tinnitus), Hearing loss, Problems with balance, Facial weakness, Brain and cranial nerve damage, Swallowing difficulties, Seizures, Vision loss, Loss of balance and mobility due to tumors of the spine, foot drop, pain, muscle wasting, or other nerve damage.

• #21 NF2-Schwannomatosis | Neurofibromatosis Center | Washington University in St. Louis

  https://nfcenter.wustl.edu/about-nf/schwannomatosis/neurofibromatosis-type-2/

  In general, most individuals with NF2-Schwannomatosis experience their first symptoms during the late teenage years or in their early 20s. […] Affected individuals may develop a variety of symptoms, including: […] Some of the earliest symptoms relate to these functions, including hearing loss, ringing in the ears (called tinnitus), and problems with balance. […] The symptoms of a schwannoma will depend on the location of the tumor. […] While most are benign (non-cancerous), they may cause neurologic symptoms, including headache, seizures, and weakness. […] These tumors can cause neurological symptoms, depending on their location. […] Some individuals with NF2-Schwannomatosis may develop a special type of cataract, known as a juvenile posterior sublenticular opacity, or experience other problems with the eyes. […] it is important for all individuals with NF2-Schwannomatosis to have a detailed eye exam by a specialist familiar with NF2-Schwannomatosis.

• #22 Schwannoma – Symptoms, Causes, TreatmentsSecond Opinion IconGroup 9Group 49

  https://www.barrowneuro.org/condition/schwannoma/

  The symptoms of a schwannoma vary depending on its size, location, and associated nerve. For example, if it’s near a nerve in your arm, you may feel pain, weakness, or tingling in that arm. […] A visible or palpable lump can develop at the site of the schwannoma, especially if it’s growing near the skin. […] Other symptoms include: Intermittent or consistent pain in the area where the tumor is located (although not all schwannomas cause pain), Numbness and tingling sensations in the area of the affected nerve, Loss of sensation in the area of the affected nerve, Muscle weakness or changes in reflexes, Dizziness or balance problems, Hearing loss or ringing in ears. […] Schwannomas grow slowly, can exist for years without symptoms, and can be present in multiple locations. […] The prognosis for individuals with schwannomas is generally excellent, especially when the tumors are detected early and are accessible for surgical removal.

• #23

  https://journals.lww.com/nsmc/fulltext/2023/05000/multiple_spinal_cord_schwannomas_in_a_58_year_old.4.aspx

  Schwannoma can rarely occur in multiple masses. Multiple lesions of schwannoma were predominantly correlated with neurofibromatosis type 2 (NF2). Unlike NF2, schwannomatosis is classified as a very rare tumor syndrome which is described as multiple schwannoma lesions without the existence of bilateral vestibular schwannoma. A 58-year-old male presented with complaint of weakness in his arm and leg and was unable to walk for 3 months. Neurological examination revealed both upper and lower extremity weakness, sensory function also decreased below C6 level, increased muscle tone, and exaggerated reflexes. The patient felt decrease in pain and numbness after the surgery. In about 3 weeks after, he was admitted again with low back and leg pains followed by hypoesthesia below Th9 levels. The patient then underwent the second laminectomy IDEM tumor resection. The patient complained of no symptoms of numbness, weakness, or pain from the 3-year period of follow-up. Chronic radiating pain followed by numbness and progressive motor weakness was the main symptoms in our case. The predominant symptom complained of by schwannomatosis patients was chronic pain in 68% of patients with schwannomatosis, which included both local and diffuse pain. Most of the patient was indicated for surgery because of the unbearable pain. The first tumor resection improved the patients neurological status and gave a definite histopathological diagnosis. In the second admission, the patient complained of severe low back and leg pain, and the second surgery completely relieved the patients symptoms. Schwannomatosis is a rare tumor syndrome which remains undiagnosed for years until it shows severe symptoms. Surgical intervention should be considered in patient with severe schwannomatosis symptoms.

• #24 Schwannomatosis patient who was followed up for fifteen years: A case report

  https://pmc.ncbi.nlm.nih.gov/articles/PMC9297415/

  Schwannomatosis is a rare disease characterized by multiple schwannomas of the whole body. Although benign, schwannomatosis that occurs in important areas of the body, such as the brain and spinal canal, can cause considerable disability and mortality. […] The main clinical manifestations of schwannomatosis are chronic pain, the occurrence of masses, and neurological symptoms in the corresponding area of innervation when the tumor compresses the nerve. Pain is usually the first symptom and is the most challenging symptom for the treatment of this disease. Additionally, chronic pain and recurrence of the tumor lead to the need for multiple surgical procedures during the course of the patient’s life, and these are the aspects that can lead to symptoms of depression and anxiety, which occur in approximately 17%-39% of patients.

• #25 Schwannomatosis patient who was followed up for fifteen years: A case report

  https://pmc.ncbi.nlm.nih.gov/articles/PMC9297415/

  The patient developed a progressive decrease in the muscle strength of both lower limbs with urinary and fecal dysfunction, and gradual paralysis began 4 years before this report. […] The patient was still alive; he had no new symptoms when compared to the previous follow-up exam, but his overall quality of life was poor. […] Long-term spinal nerve compression led to paralysis of both lower limbs and a severe reduction in his quality of life. […] The treatment resolved his pain and numbness that was present on the ulnar side of his left hand. […] The choice of surgical timing is crucial. Early surgery can relieve the compression of the spinal cord and nerve by tumor tissue as soon as possible to preserve limb function to the greatest extent and improve the quality of life. However, in the process of treatment, we often ignore the psychological and mental status of patients. […] This psychological disorder also causes patients to fail to see a doctor in time, thus missing the best treatment opportunity, resulting in irreversible damage to the nervous system and reducing the quality of life and survival rate.

• #26 NF2-Related Schwannomatosis (Neurofibromatosis Type 2)

  https://my.clevelandclinic.org/health/diseases/16196-neurofibromatosis-type-2-nf2

  Symptoms of NF2 vary based on where you have tumors and their size. The first symptoms you might notice happen as a result of tumors on your auditory nerves and include: […] Symptoms caused by tumors outside of your auditory nerves include: […] Most symptoms appear between late childhood and age 30. But the condition can affect anyone at any age. In adults, the tumors often affect the auditory nerves, causing hearing problems first. In children, tumors are often on their brain or spinal cord. If tumors show up during childhood or adolescence, that usually predicts a more severe disease course. […] NF2-related tumors can affect your life expectancy, depending on their size, location and age at initial diagnosis. Sometimes, the tumors don’t cause symptoms, while others may cause severe symptoms. Your outlook improves if you receive an early diagnosis and treatment before complications happen. Your healthcare provider will examine how your symptoms affect you to give you a more accurate prognosis.

• #27 Schwannomatosis – VALINTERMED treatment in Valencia

  https://valintermed.com/en/medlibrary/shvannomatoz/

  Schwannomatosis occurs with a frequency of approximately 1 in 25,000 people worldwide. The disease is predominantly diagnosed in people aged 20 to 30 years, but symptoms can appear earlier, even in childhood. Notably, about half of the cases of schwannomatosis become clinically apparent in adolescence, while the remaining cases may manifest later. […] The main symptoms are hearing loss, dizziness and neurological disorders. […] The difficulty of diagnosis lies in the fact that schwannomatosis can have mild manifestations and requires a careful approach to establish a definitive diagnosis. […] In children, the disease may manifest itself more aggressively, while in adults, tumors often grow slowly and symptoms are less pronounced. […] The main symptoms include hearing loss, dizziness and pain syndromes resulting from pressure on the nerve endings.

• #28 Neurofibromatosis (NF) – Seattle Children’s

  https://www.seattlechildrens.org/conditions/neurofibromatosis/

  Symptoms of NF1, NF2-related schwannomatosis and other forms of schwannomatosis vary widely from child to child. […] Some children with NF2-related schwannomatosis have tumors along the nerves that carry sound and balance information from the inner ear to the brain. These are called vestibular schwannomas. They may cause symptoms like: […] Children who have other types of schwannomatosis have noncancerous (benign) tumors, called schwannomas. These schwannomas can form on nerves anywhere in the body. They may cause pain that is hard to manage. […] In addition to pain, the tumors may cause: […] We watch closely for signs that tumors might lead to problems like hearing loss, facial paralysis, disfigurement, numbness, weakness or balance issues. If tumors need treatment, your child may have surgery to remove all or part of the tumor.

• #29 Schwannomatosis – CheckOrphan

  https://checkorphan.org/disease/schwannomatosis/

  Schwannomas develop on cranial, spinal and peripheral nerves, symptoms are: Chronic pain, sometimes numbness, tingling and weakness. […] About 1/3 of patients have segmental Schwannomatosis, which means that the Schwannomas are limited to a single part of the body, such as an arm, a leg or the spine. […] Chronic pain, and sometimes numbness, tingling and weakness. […] Symptoms are sometimes brought on by hormonal changes such as puberty and pregnancy.

• #30 Schwannomatosis | Beacon Health System

  https://www.beaconhealthsystem.org/library/diseases-and-conditions/schwannomatosis?content_id=CON-20563921

  These types of schwannomatosis also can cause tumors to grow in the ear. But it happens rarely, and tumors usually grow in only one ear. This differs from NF2, which causes tumors to grow in both ears. For this reason, people with SMARCB1- and LZTR1-related schwannomatosis don’t have the same hearing loss as people who have NF2.

• #31 Schwannomatosis | Health Library | Memorial Health System

  https://www.mhsystem.org/health-library/con-20563921/

  These types of schwannomatosis also can cause tumors to grow in the ear. But it happens rarely, and tumors usually grow in only one ear. This differs from NF2, which causes tumors to grow in both ears. For this reason, people with SMARCB1- and LZTR1-related schwannomatosis dont have the same hearing loss as people who have NF2.

• #32 Schwannomatosis?

  https://www.anausa.org/smf/index.php?topic=4131.0

  Schwannomatosis is a newly recognized neurofibromatosis that is genetically and clinically distinct from NF1 and NF2. Like NF2 it occurs rarely. Inherited forms of the disorder account for only 15 percent of all cases. Researchers still dont fully understand what causes the tumors and the intense pain that are characteristics of the disorder. […] The distinguishing feature of schwannomatosis is the development of multiple schwannomas everywhere in the body except on the vestibular nerve. The dominant symptom is excruciatingly intense pain, which develops when a schwannoma enlarges, compresses nerves, or presses on adjacent tissue. Some people experience additional neurological symptoms, such as numbness, tingling, or weakness in the fingers and toes. Patients with schwannomatosis never have neurofibromas.

• #33 C-Fiber Loss as a Possible Cause of Neuropathic Pain in Schwannomatosis

  https://www.mdpi.com/1422-0067/21/10/3569

  The pain syndrome observed in patients with schwannomatosis has neuropathic features. […] Conclusively, the pain syndrome observed in patients with schwannomatosis has neuropathic features. […] Our assumption that schwannomatosis-related pain might be caused by a loss of C-fiber function and subsequent small-fiber neuropathy is substantiated by the results of intraepidermal nerve fiber density measurements, which are currently considered the gold standard for the diagnosis of small-fiber neuropathies. […] In our study, all schwannomatosis patients showed considerable reduction of the intraepidermal nerve fiber density, indicative of chronic small-fiber neuropathy as cause for the neuropathic pain experienced by schwannomatosis patients. […] The decisive diagnostic feature, which separates schwannomatosis clearly from NF1 and NF2, is the marked reduction of IENFD. […] Neuropathic pain is defined as pain caused by a lesion or disease of the somatosensory nervous system. Here, we demonstrated this premise for neuropathic pain with the marked loss of epidermal nerve fibers in schwannomatosis patients.

• #34 The Secretomes of Painful Versus Nonpainful Human Schwannomatosis Tumor Cells Differentially Influence Sensory Neuron Gene Expression and Sensitivity | Scientific Reports

  https://www.nature.com/articles/s41598-019-49705-w

  Schwannomatosis is a multiple tumor syndrome in which patients develop benign tumors along peripheral nerves throughout the body. The first symptom with which schwannomatosis patients often present, prior to discovery of tumors, is pain. This pain can be debilitating and is often inadequately alleviated by pharmacological approaches. Schwannomatosis-associated pain can be localized to the area of a tumor, or widespread. Moreover, not all tumors are painful, and the occurrence of pain is often unrelated to tumor size or location. […] Sixty-eight percent of SWN patients also report chronic pain, which is often debilitating. Pain in SWN has been described as localized in some patients and diffuse in others. The size and location of the tumor(s) do not necessarily relate to the severity of pain experienced by the patient.

• #35 The Secretomes of Painful Versus Nonpainful Human Schwannomatosis Tumor Cells Differentially Influence Sensory Neuron Gene Expression and Sensitivity | Scientific Reports

  https://www.nature.com/articles/s41598-019-49705-w

  The mechanisms driving the pain phenotype in SWN patients are unknown. Patients vary in their presentation of pain and describe their experiences with pain as acute, chronic, localized, or widespread. Pain in SWN patients is classified as inflammatory or neuropathic. The drugs that are available to treat pain are grossly ineffective in this patient population. Currently the standard of care to alleviate pain is to remove the tumor that is thought to be the cause of pain. This is a difficult undertaking. The surgeon must attempt to localize the tumor that is causing pain. When a patient has a moderate tumor burden and pain is widespread there is uncertainty as to which tumor(s) should be removed. Even if the tumor is removed, the pain may not be resolved or may recur if the tumor grows back.

• #36 The Secretomes of Painful Versus Nonpainful Human Schwannomatosis Tumor Cells Differentially Influence Sensory Neuron Gene Expression and Sensitivity | Scientific Reports

  https://www.nature.com/articles/s41598-019-49705-w

  The reasons why some SWN tumors cause significant pain and others don’t remain a mystery. Given this heterogeneity, we hypothesized that painful tumors might secrete specific factors that act on the nearby sensory nerves, causing the latter to be sensitized. […] We have demonstrated that CM from painful schwannomas exhibit a differential capacity to sensitize DRG neurons, relative to CM from nonpainful tumors, and that this functional effect is associated with alterations in the expression of several pain-related target genes in the DRG.

• #37 Schwannomatosis Symptoms and Management

  https://www.medicoverhospitals.in/diseases/schwannomatosis/

  The symptoms of schwannomatosis vary widely depending on the size and location of the tumors. Common symptoms include: […] Chronic Pain: Pain is the most prevalent symptom of schwannomatosis, often resulting from nerve compression by tumors. […] Numbness and Tingling: Affected nerves can cause sensory disturbances, including numbness and tingling sensations. […] Muscle Weakness: Tumors pressing on motor nerves may lead to muscle weakness or even paralysis. […] Bowel and Bladder Dysfunction: Schwannomas in the pelvic region can affect bowel and bladder control. […] The presentation of symptoms can be misleading, as they often mimic other neurological disorders, complicating the diagnosis process. Therefore, a thorough understanding of the symptomatology is crucial for distinguishing schwannomatosis from other conditions.

• #38 Neurofibromatosis type 2 (NF2)

  https://www.nhs.uk/conditions/neurofibromatosis-type-2/

  Most people with neurofibromatosis type 2 (NF2) get tumours in their inner ear. […] These tumours grow slowly and cause symptoms such as: hearing loss, ringing or buzzing in your ears (tinnitus), balance problems. […] The symptoms of NF2 usually appear during the late teens or early twenties. Children can sometimes have symptoms. […] Lumps or marks on the skin and difficulty lifting or moving the feet (foot drop) are also common symptoms of NF2 in children. […] Neurofibromatosis type 2 (NF2) is a lifelong condition that usually gets worse over time. […] The size of tumours, where they grow and how quickly symptoms get worse can vary from person to person. But for many people, the condition has a significant impact on daily life. […] Tumours in the inner ear can eventually result in you losing your hearing. You may also have difficulty moving around and may need equipment to help, such as a wheelchair. […] NF2 can affect how long you live, but this depends on your symptoms and how they affect you. Your care team will be able to speak to you about life expectancy if you want to know more.

• #39 Reddit – The heart of the internet

  https://www.reddit.com/r/neurofibromatosis/comments/jitl89/diagnosed_at_30_nf1schwannomatosis/

  I noticed a small lump at the base of my spine about two years ago. MRIs showed three small lesions. I’ve had ringing in my ears for a month now, but I assumed it was from my teething baby loudly voicing his displeasure in my ears daily. […] I know I’m lucky because I’ve had only mild pain. But I just had my first baby. I’m sick with worry about what might happen with my ten month old if I’ve passed on something to him. I know it manifests differently in everybody and I’m terrified for him.

• #40 Schwannomatosis Symptoms and Management

  https://www.medicoverhospitals.in/diseases/schwannomatosis/

  The prognosis of schwannomatosis varies significantly among individuals, influenced by factors such as tumor location, size, and the presence of genetic mutations. While schwannomas are benign, their impact on nerves can lead to chronic pain and functional impairments. Early diagnosis and effective management can improve quality of life and reduce the risk of complications. […] Symptoms may include painful tumors on peripheral nerves, numbness, and tingling, requiring ongoing medical evaluations and management.

• #41 What are the symptoms of schwannomatosis? – Neurofibromatosis Midwest

  https://www.nfmidwest.org/blog/ufaqs/what-are-the-symptoms-of-schwannomatosis/

  As schwannomatosis is a recently recognized disorder, the full spectrum of symptoms is not yet known. For some people, the first symptom of schwannomatosis is pain. This pain may be in any part of the body and may become very debilitating. Schwannomatosis may also cause numbness, tingling, or weakness due to nerve or spinal cord compression. […] Other symptoms (depending on the location of the tumor) may include: […] Unlike NF2, people with schwannomatosis do not develop vestibular tumors and do not go deaf. They also do not typically develop any other kinds of tumors associated with neurofibromatosis (for example, meningiomas, ependymomas or astrocytomas) and do not have learning disabilities. The schwannomas that form as part of schwannomatosis are benign, with very rare exceptions.

• #42

  https://www.omim.org/entry/101000

  Patients presented with symptoms attributable to vestibular schwannomas (acoustic neuroma), cranial meningiomas, and spinal tumors. In 100 patients studied personally by the authors, 44 presented with deafness, which was unilateral in 35. Deafness was accompanied by tinnitus in 10. Muscle weakness or wasting was the first symptom in 12%. In 3 of the 100 patients, there was a distal symmetrical sensorimotor neuropathy, confirmed by nerve conduction studies and electromyography. […] The mean age at onset was 21.57 years (n = 110) and no patient presented after 55 years of age. […] The average age at onset of deafness was 20 years. […] The average age at death of affected persons in the second generation was 72, in the third generation 63, in the fourth 42, and in the fifth 28. […] Evans et al. (1992) divided their 120 cases of NF2 into 2 types: the Wishart (1822) type, with early onset, rapid course, and multiple other tumors in addition to bilateral vestibular schwannomas, and the Gardner type (1930, 1933, 1940), with late onset, more benign course, and usually only bilateral vestibular schwannomas.

• #43 Schwannomatosis | Texas NF Foundation

  https://www.texasnf.org/schwannomatosis

  The signs and symptoms of schwannomatosis usually appear in early adulthood. The most common symptom is long-lasting (chronic) pain, which can affect any part of the body. In some cases, the pain is felt in areas where there are no known tumors. The pain associated with this condition ranges from mild to severe and can be difficult to manage. Other signs and symptoms that can occur with schwannomatosis depend on the location of the tumors and which nerves are affected. These problems include numbness, weakness, tingling, and headaches. […] The life expectancy of people with schwannomatosis is normal.

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