Miniature Palpebral Plexiform Neurofibroma in Neurofibromatosis Type 2

Area of Science:

• Dermatology
• Oncology
• Genetics

Background:

• Neurofibromatosis 2 (NF2) is a genetic disorder primarily associated with tumors of the nervous system.
• Cutaneous manifestations in NF2 are less common and not extensively studied compared to NF1.
• Plexiform neurofibromas are rare tumors, typically associated with NF1.

Observation:

• A 27-year-old woman with NF2 presented with a slow-growing, painless nodular lesion on her left upper eyelid.
• The lesion was surgically excised for diagnosis and further examination.

Findings:

• Histopathology confirmed a plexiform neurofibroma with intradermal nodules.
• Immunohistochemistry revealed diffuse SOX-10 and S100 reactivity, with focal neurofilament and CD34 expression.
• Nodules were surrounded by perineurium positive for epithelial membrane antigen (EMA) and glucose transporter 1 (GLUT1).

Implications:

• This case represents a rare instance of a plexiform neurofibroma occurring in an eyelid of an NF2 patient.
• It contributes to the limited literature on cutaneous abnormalities in NF2.
• The findings underscore the importance of comprehensive evaluation for diverse tumor types in NF2 patients.