Schwannomatosis [Supplementary Concept]
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 introduced: August 25, 2010
MeSH Unique ID: C536641
Heading Mapped to:
Entry Terms:
- Neurilemmomatosis, congenital cutaneous
- Schwannomatosis 1