Phalanges deformity associated with neurofibromatosis-1: a case report

Area of Science:

• Orthopedics
• Oncology
• Genetics

Background:

• Neurofibromatosis type 1 (NF1) is a genetic disorder that can cause tumors to grow on nerves.
• Phalangeal deformities are uncommon manifestations of NF1.
• Neurofibromas are benign tumors that arise from nerve sheath cells.

Observation:

• A 17-year-old male presented with a phalangeal deformity of the left ring finger.
• The deformity was attributed to a neurofibroma, a tumor associated with NF1.
• The mass affected the bone structure and overall digital alignment.

Findings:

• Surgical resection of the phalangeal neurofibroma was performed.
• Histopathological examination confirmed the diagnosis of neurofibroma.
• Post-operative follow-up for three years showed no evidence of tumor recurrence.

Implications:

• This case highlights the importance of considering NF1 in the differential diagnosis of phalangeal deformities.
• Early surgical intervention can be effective in managing symptomatic neurofibromas.
• Long-term surveillance is crucial to monitor for potential recurrence in NF1 patients.