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schwannomatosis (congenital cutaneous neurilemmomatosis)
Pathology:
- multiple schwannomas in the same individual suggest an underlying tumor-predisposition syndrome; the most common such syndrome is neurofibromatosis-2
- although dermal schwannomas may precede vestibular tumors in children with neurofibromatosis-2, multiple schwannomas that occur without vestibular schwannoma, suggests a clinical entity distinct from neurofibromatosis-2
Genetics:
- associated with defects in NF2
- associated with defects in SMARCB1
Related
neurofibromatosis (central) type 2
schwannoma (neurilemoma, neurinoma)
vestibular schwannoma (acoustic neuroma)
General
hereditary neoplastic syndrome; cancer susceptibility syndrome
Database Correlations
OMIM 162091
References
OMIM :accession 162091