SCHWANNOMATOSIS - A CLINICAL ENTITY DISTINCT FROM NEUROFIBROMATOSIS TYPE-2

Background: Schwannomatosis includes multiple cutaneous schwannomas, c entral nervous system tumors and various neurologic deficits, Objectiv e: To specify the clinical presentation of schwannomatosis, excluding neurofibromatosis type 2 (NF2), Methods: Patients with at least 2 cuta neous schwannomas were evaluated for NF2 criteria. Results: 5 men and 2 women (mean age 54+/-18 years) we included, Two cases were familial, Cutaneous schwannomas were tender nodules with onset above the age of 30 years, Four patients had paresthesias. Four patients had hypacusis , but auditory brainstem responses showed no retrocochlear involvement , No vestibular schwannoma or central nervous system tumor was found w ith magnetic resonance imaging in 6 patients, Spinal imaging performed in 6 patients was normal in 5 and showed a spinal schwannomas the 6th patient, Conclusion: We strictly eliminated the diagnosis of NF2 in o ur patients, Exclusion of NF2 in suspected schwannomatosis is essentia l for further molecular genetic studies.