Schwannomatosis is an extremely rare genetic disorder closely related to the more-common disorder neurofibromatosis (NF). Originally described in Japanese patients,[1] it consists of multiple cutaneous schwannomas, central nervous system tumors, and other neurological complications, excluding hallmark signs of NF. The exact frequency of schwannomatosis cases is unknown, although some populations have noted frequencies as few as 1 case per 1.7 million people.[2]
Schwannomas are mostly benign tumors that commonly occur in individuals with NF2 and schwannomatosis (sometimes called neurofibromatosis type III). Schwann cells are glial cells that myelinate the axons of nerve cells. Myelin is a lipid covering that speeds the conduction of action potentials. When Schwann cells proliferate out of control in an encapsulation it is called a schwannoma. Although schwannomas are benign they become detrimental when the growing tumor compresses the nerve. Schwannomas on sensory nerve axons cause chronic severe pain. Treatment options for schwannomas are to surgically remove them, have radiation, cyberknife or intracapsular enucleation. Previous designations for schwannomas include neurinoma and neurilemmoma.[3]
^Ruggieri M, Huson SM (April 1999). "The neurofibromatoses. An overview". Ital J Neurol Sci. 20 (2): 89–108. doi:10.1007/s100720050017. PMID 10933430. S2CID 11471989.
^NIH, Genetics Home Reference -. "Your Guide to Understanding Genetic Conditions: Schwannomatosis". Genetics Home Reference. Retrieved 2019-01-03.
^Hanemann CO, Evans DG (December 2006). "News on the genetics, epidemiology, medical care and translational research of Schwannomas". J. Neurol. 253 (12): 1533–41. doi:10.1007/s00415-006-0347-0. PMID 17219030. S2CID 11854280.
with schwannomatosis. It is located on chromosome 22 a short distance from the NF2 gene. However, molecular analysis of the NF2 gene in schwannomatosis patients...
Schwannomatosis symptoms develop in early childhood and can worsen with time. Typically life expectancy is unaffected in those with schwannomatosis....
Smith in 2017. This included the consideration of a LZTR1 mutation (schwannomatosis) instead of NF2 and excluded bilateral vestibular schwannomas that...
correlation with schwannoma predisposition disorders like NF2 and schwannomatosis, however, is minimal (approximately 5 percent of cases). These tumors...
primary structure of amino acid for the LZTR protein. In patients with schwannomatosis, more than fifty different mutations in the LZTR1 gene are observed...
peripheral nervous system, and secondarily of the central nervous system. Schwannomatosis is a rare condition defined by the presence of multiple benign tumors...
mutations and thus the development of a tumor. Multinodular goiter with schwannomatosis has been shown to be an autosomal dominant condition associated with...
homeless charities with ties to her church. Foster had epilepsy and schwannomatosis, and wrote about her experience of disabilities and disability rights...
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