Ultrasonography for Surgical Planning and Follow-Up in Neurofibromatosis Type 1

Diagnostics (Basel). 2026 May 20;16(10):1556. doi: 10.3390/diagnostics16101556.

Abstract

Ultrasonography can assist in the preoperative evaluation and postoperative surveillance of superficial soft tissue tumors of the hand. We present an ultrasound-based identification of a neurofibroma in a patient with neurofibromatosis type 1 (NF1). A 45-year-old male presented with a slowly enlarging subcutaneous mass over the dorsal aspect of the hand associated with localized paresthesia. Physical examination revealed characteristic NF1 stigmata, including café-au-lait macules, axillary freckling, and craniofacial asymmetry suggestive of sphenoid wing dysplasia. High-resolution ultrasonography demonstrated a well-defined hypoechoic fusiform lesion along the course of a digital nerve, suggestive of a peripheral nerve sheath tumor. Magnetic resonance imaging showed a T2-hyperintense lesion compatible with a nerve sheath tumor. Surgical excision was subsequently performed, and histopathological examination confirmed a localized neurofibroma with incorporation of native nerve fascicles within a myxoid spindle cell matrix. Serial postoperative ultrasonography at 3 and 12 months demonstrated no evidence of local recurrence. This case highlights ultrasonography as a practical, radiation-free, and cost-effective modality for both preoperative assessment and longitudinal follow-up of superficial NF1-associated neurofibromas.

Keywords: neurofibroma; peripheral nerve sheath tumor; ultrasound.