What to know about schwannomatosis: a literature review

Abstract

Background: Schwannomatosis is a relatively rare disorder and is related to neurofibromatosis type 2. Although there is clinical overlap between schwannomatosis and neurofibromatosis type 2, these diseases have to be regarded as separate entities due to the genetic origin and course of the disease. Methods: A comprehensive review of the literature was conducted for relevant studies using Pubmed and Cochrane databases to discuss the epidemiology, clinical presentation, diagnostic criteria, pathological and imaging features, treatment and genetics of schwannomatosis. Results: Germline mutations SMARCB1 and LZTRI together with the NF2 gene play a role in the pathophysiology of schwannomatosis. The most common symptom is pain with affection of the spine and peripheral nerves in the majority of patients. High quality contrast enhanced MRI scan is the imaging modality of choice. Treatment is conservative if asymptomatic and surgical if symptomatic. The goal is symptom control with preservation of neurological function. Conclusion: Schwannomatosis is a relatively rare disorder in which the main goal is to preserve neurological function.

Schwannomatosis of the tibial nerve

“…Thus, in this case, multiple schwannomas, multiple plexiform schwannoma, schwannomatosis and neurofibromatosis should be included in the differential diagnosis-Multiple schwannomas including plexiform schwannoma and schwannomatosis are considered to be the same disease, but neurofibromatosis and malignant peripheral nerve tumors should be distinguished because confusion with those disease can lead to under or overtreatment. 1,[3][4][5][6][7][8] A plexiform schwannoma is a small, isolated mass in the skin and subcutaneous tissue, that rarely appears as multiple tumors in deep tissue. 5,6 It features multinodular lesions showing a plexiform macroscopically and histologically.…”

“…2,8,9 In NF 1 and NF 2, multiple nerve sheath tumors are observed which are mostly neurofibroma in NF 1 and schwannoma in NF 2.9 Schraepen et al stated that although schwannomatosis has a clinical picture somewhat similar to that of NF 2, it must be differentiated from NF 1 and especially NF 2 because the course of the disease and its prognosis may vary. 3 Therefore, in the case of multiple schwannomas in the upper and lower extremities, differentiation from NF 2 is required. The characteristic clinical finding of NF 2 is bilateral vestibular schwannoma, which can be confirmed by MRI of the brain.…”

“…In those cases, it should be differentiated from plexiform schwannoma, schwannomatosis, neurofibromatosis type 2 (NF 2), and malignant peripheral nerve tumors. 2,3 Among these, schwannomatosis is defined as multiple occurrences with the general characteristics of peripheral and spinal schwannoma, but is not accompanied by vestibular schwannoma of the brain, as seen in NF 2. [2][3][4] The authors observed multiple schwannomas along the tibial nerve, which were not related to NF 2, so here we report the case along with a literature review.…”

Neurofibromatosis: analysis of clinical cases and new diagnostic criteria

“…Синдром Коффина-Cириса (OMIM: 614608)редкое генетическое заболевание, которое может сочетаться с ШВМТ при локализации патогенной мутации в SMARCB1. В соматическом и неврологическом статусе превалируют когнитивные нарушения, адаптивные и поведенческие расстройства, могут наблюдаться микроцефалия и признаки врожденной дисплазии соединительной ткани [50,51].…”

Hereditary intraspinal schwannomatosis with SMARCB1 gene mutation: A case report

“… 3 Schwannomatosis is rarely observed in the clinic, with an annual incidence of 0.58 per 1 million cases. 4 The pathogenesis, diagnosis, and treatment of schwannomatosis are far more complex than those for a single schwannoma. In addition, schwannomatosis is often misdiagnosed clinically as neurofibromatosis type 2 (NF2) due to a lack of systematic understanding of the disease and phenotypic overlap with NF2.…”