Neurilemmomatosis, NF2, and juvenile xanthogranuloma

The gene locus for neurilemmomatosis has been reported to lie within the neurofibromatosis type 2 gene region, suggesting that these 2 diseases may be identical. We describe an adolescent girl with multiple neurilemmomas and juvenile xanthogranulomas, who was found to have bilateral acoustic neuromas and multiple central nervous tissue tumors as seen in patients with a diagnosis of neurofibromatosis type 2. This case and recent genetic studies suggest that neurilemmomatosis and neurofibromatosis type 2 are the same disease.