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Schwannomatosis MeSH Supplementary Concept Data 2022


MeSH Supplementary
Schwannomatosis
Unique ID
C536641
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/C536641
Entry Term(s)
Neurilemmomatosis, congenital cutaneous
Schwannomatosis 1
Registry Number
0
Heading Mapped to
*Neurilemmoma
*Skin Neoplasms
*Neurofibromatoses
Frequency
139
Note
A neurofibromatosis characterized by multiple cutaneous neurilemmomas and spinal schwannomas, without ACOUSTIC NEUROMAS or other signs of NEUROFIBROMATOSIS I (OMIM: 162200) or NEUROFIBROMATOSIS II (OMIM: 101000); neurilemmomas consist of SCHWANN CELLS. Some patients may develop MENINGIOMAS. Germline mutations in the SMARCB1 gene and somatic mutations in the NF2 gene have been identified. OMIM: 162091
Date of Entry
2010/08/25
Revision Date
2019/06/17
Schwannomatosis Preferred
Neurilemmomatosis, congenital cutaneous Narrower
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