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

Area of Science:

• Genetics
• Neurology
• Oncology

Background:

• Neurofibromatosis type 2 (NF2) is a rare genetic disorder characterized by tumors in the central and peripheral nervous systems.
• Typical NF2 manifestations include bilateral vestibular schwannomas and associated auditory or balance issues.
• Cutaneous involvement can occur but is less common than neurological symptoms.

Observation:

• A case study of a 20-year-old male presenting with a solitary, painless subcutaneous nodule in the preauricular area.
• Pathological diagnosis of the nodule confirmed it as a schwannoma.
• Subsequent MRI revealed extensive, multiple mass lesions characteristic of NF2 throughout the central and peripheral nervous systems.

Findings:

• The patient was diagnosed with NF2 based on clinical criteria, despite the initial isolated presentation.
• The case highlights that NF2 can present initially with a peripheral schwannoma without other overt clinical findings.
• This presentation underscores the diagnostic challenge of NF2 in atypical cases.

Implications:

• Young patients with peripheral schwannomas warrant thorough investigation for NF2, even in the absence of other symptoms.
• Early identification of NF2 enables timely management, such as radiosurgery for vestibular schwannomas.
• This case broadens the understanding of NF2's diverse clinical presentations.