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schwannomatosis (SCHWA)

Defects in SMARCB1 are a cause of schwannomatosis (SCHWA) [MIM:162091]; also called congenital cutaneous neurilemmomatosis. Schwannomas are benign tumors of the peripheral nerve sheath that usually occur singly in otherwise normal individuals. Multiple schwannomas in the same individual suggest an underlying tumor-predisposition syndrome. The most common such syndrome is NF2. The hallmark of NF2 is the development of bilateral vestibular-nerve schwannomas; but two-thirds or more of all NF2-affected individuals develop schwannomas in other locations, and dermal schwannomas may precede vestibular tumors in NF2-affected children. There have been several reports of individuals with multiple schwannomas who do not show evidence of vestibular schwannoma. Clinical report suggests that schwannomatosis is a clinical entity distinct from other forms of neurofibromatosis.

OTHER NAME(S): congenital cutaneous neurilemmomatosis

ABREVIATION(S):
SCHWA

TYPE: nervous system (NS) cancer, CANCER

Related patway(s): chromatin remodeling

DNAtraffic protein(s) related to disease: SMARCB1 (SNF5)

OMIM: 162091

Last modification date: Aug. 21, 2011