Schwannomatosis: Review of Diagnosis and Management

Schwannomatosis is a relatively new addition to the neurofibromatosis family of disorders. Occurring in only 1 in every 70,000 live births, it is the rarest neurofibromatosis and is characterized by the proliferation of peripheral nerve and spinal schwannomas. Genetic studies have identified SMARCB1 and LZTR1 as playing key roles in the pathogenesis of this disease. Patients most commonly present in the fourth or fifth decade of life with chronic and neuropathic pain, the medical management of which forms the core of therapy in this patient population. Surgical excision appears to have a role in the treatment of medically refractory, radicular, or neuropathic pain that is attributable to the schwannoma. At present no systemic therapies exist, and this remains an area of key interest for investigation.