Dermoscopy-Guided High-Frequency Ultrasound Imaging of Subcentimeter Cutaneous and Subcutaneous Neurofibromas in Patients with Neurofibromatosis Type 1

TL;DR

This study uses a new imaging technique to better understand and measure small neurofibromas in patients with Neurofibromatosis Type 1.

Contribution

The study introduces dermoscopy-guided high-frequency ultrasound as a novel method for detailed and reproducible neurofibroma assessment.

Findings

Most neurofibromas were dermal (79%) and showed varied shapes like ovoid and round.

DG-HFUS revealed that 62% of lesions were homogeneous and 38% were heterogeneous in echogenicity.

The technique supports improved diagnosis, monitoring, and treatment planning for NF1 patients.

Abstract

Background: Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder characterized by cutaneous and subcutaneous neurofibromas, which impact quality of life. Dermoscopy-guided high-frequency ultrasound (DG-HFUS) integrates dermoscopy with 33 MHz ultrasound, enabling precise lesion localization and reproducible measurements. Objective: To characterize neurofibromas in NF1 patients using DG-HFUS and identify imaging parameters for diagnosis, monitoring, and treatment planning. Methods: 14 genetically confirmed NF1 patients underwent DG-HFUS imaging (Dermus SkinScanner). 100 neurofibromas were assessed for size, location, shape, contours, surface, echogenicity, global echogenicity, and posterior acoustic features. Results: Lesions were dermal (79%) or subcutaneous (21%), round (28%), ovoid (63%), or spiked (9%). Mean vertical and lateral diameters were 5.37 ± 2.66 mm and 2.28 ± 1.39 mm. All were hypoechoic; 62% homogeneous, 38% heterogeneous. Margins were well-defined in 57% and poorly defined in 43%. Posterior enhancement occurred in 3% and shadowing in 10%. Conclusions: DG-HFUS provides a detailed, reproducible assessment of neurofibromas, supporting differential diagnosis, surgical planning, and longitudinal monitoring. The evaluated imaging parameters offer objective insights for optimizing NF1 management. Future developments, including 3D reconstruction and AI-assisted analysis, may further enhance its clinical utility.

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