Ultrasonography for Surgical Planning and Follow-Up in Neurofibromatosis Type 1
Diagnostics, vol.16, no.10, 2026 (SCI-Expanded, Scopus)
- Publication Type: Article / Article
- Volume: 16 Issue: 10
- Publication Date: 2026
- Doi Number: 10.3390/diagnostics16101556
- Journal Name: Diagnostics
- Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, EMBASE, Directory of Open Access Journals
- Keywords: neurofibroma, peripheral nerve sheath tumor, ultrasound
- Hacettepe University Affiliated: Yes
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.