Neurofibromatosis type 2 initially presenting as a preauricular mass: A case report

Abstract

Neurofibromatosis type 2 (NF2) is a rare genetic disease involving multiple tumors of the central and peripheral nervous systems. Most patients with NF2 have bilateral vestibular schwannomas; nonvestibular schwannomas may also develop. While the majority of patients may present with hearing impairment, tinnitus, dizziness and balance disorders, some may present with cutaneous manifestations. We describe the case of a 20-year-old man who initially presented with a solitary subcutaneous painless nodule in the left preauricular area without any other symptoms. He received excisional biopsy for the preauricular mass and the pathologic diagnosis was schwannoma. Magnetic resonance imaging of brain and neck revealed multiple mass lesions over the bilateral cerebellopontine angle cisterns, extending to the bilateral internal auditory canals, bilateral cervical neuroforamens, cervical and upper thoracic spinal canals, and left posterior neck. The patient was diagnosed with NF2 according to the clinical criteria. He underwent gamma knife stereotactic radiosurgery for bilateral vestibular schwannomas and is now under regular monitoring. Conclusion NF2 patients may present with an isolated solitary cutaneous schwannoma with no other associated clinical findings. Further assessment is thus warranted in young patients presenting with a peripheral schwannoma despite absence of other clinical findings.

Neurofibromatosis Type-2 presenting with vision impairment

“…This is compatible with Lan et al, who reported that most NF2 adult patients initially presented with unilateral hearing loss with accompanying or preceding tinnitus. 7 …”

“…This is compatible with Lan et al, who reported that most NF2 adult patients initially presented with unilateral hearing loss with accompanying or preceding tinnitus. 7 The pathophysiology of NF2 hearing loss is not fully understood and may be attributable to several complex factors including; direct mechanical compression of the adjacent neurovascular structures, tumour secreting factors that cause a loss of hair cells, and elevated perilymphatic protein level that induce cochlear dysfunction. 6 A study by Asthagiri et al indicated that elevated intralabyrinthine perilymphatic proteins may underlie hearing loss, and labyrinthine high signal intensity on MRI in normal hearing ears may serve as an imaging biomarker for developing hearing loss.…”

Miniature Palpebral Plexiform Neurofibroma in Neurofibromatosis Type 2

“…The most common cutaneous abnormalities in NF2 are schwannomas, 4,5 although neurofibromas and mixed tumors have occasionally been identified. 6–8 While neurofibromas (and cafe au lait spots) may occur in NF2 they do so in lesser frequency than in NF1.…”

Oculomotor nerve palsy in neurofibromatosis type 2

“…Unfortunately, even though these tumors are benign, they are associated with significant morbidity and the potential for early mortality [ 7 ]. In the case of Lan WC et al., NF2 patients may present with an isolated, solitary cutaneous schwannoma with no other associated clinical findings [ 8 ]. However, further assessment is warranted in young patients presenting with a peripheral schwannoma with no other clinical findings [ 8 ].…”

“…In the case of Lan WC et al., NF2 patients may present with an isolated, solitary cutaneous schwannoma with no other associated clinical findings [ 8 ]. However, further assessment is warranted in young patients presenting with a peripheral schwannoma with no other clinical findings [ 8 ]. Subsequently, Baser et al.…”