Schwannomatosis: a clinical entity distinct from neurofibromatosis type 2.

BACKGROUND

Schwannomatosis includes multiple cutaneous schwannomas, central nervous system tumors and various neurologic deficits.

OBJECTIVE

To specify the clinical presentation of schwannomatosis, excluding neurofibromatosis type 2 (NF2).

METHODS

Patients with at least 2 cutaneous 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 with magnetic resonance imaging in 6 patients. Spinal imaging performed in 6 patients was normal in 5 and showed a spinal schwannoma in the 6th patient.

CONCLUSION

We strictly eliminated the diagnosis of NF2 in our patients. Exclusion of NF2 in suspected schwannomatosis is essential for further molecular genetic studies.