schwannomatosis

(redirected from congenital cutaneous neurilemmomatosis)
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schwannomatosis

An inherited predisposition to develop benign tumours of the peripheral nerve sheath (OMIM:162091) that usually occur singly in otherwise normal individuals, which is regarded as a clinical entity distinct from other forms of neurofibromatosis.

Molecular pathology
Defects in SMARCB1, which encodes a core component of the ATP-dependent chromatin-remodelling BAF (hSWI/SNF) complex with key roles in cell proliferation and differentiation, cause schwannomatosis.
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