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

More general terms

• hereditary neoplastic syndrome; cancer susceptibility syndrome

Additional terms

• neurofibromatosis (central) type 2
• schwannoma (neurilemoma, neurinoma)
• vestibular schwannoma (acoustic neuroma)

Database

• OMIM: https://mirror.omim.org/entry/162091