Sonographic Characterization of Red-Blue Neurofibromas in Patients With Neurofibromatosis Type 1: An Observational Prospective Study.

IF 2.1 4区 医学 Q2 ACOUSTICS
Inés Oteiza-Rius, Ángela Estenaga Pérez de Albéniz, Ángela Hernández-Martin, Fernando Alfageme Roldán, Francisco Javier García-Martínez
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引用次数: 0

Abstract

Objectives: Red-blue neurofibromas (RBNs), found in up to 29% of adult neurofibromatosis type 1 (NF1) patients, present as red-blue macules measuring 1-2 cm in diameter, primarily on the trunk. Despite their prevalence, RBNs often go unnoticed due to their subtle appearance. Ultrasound characterization serves as a diagnostic clue yet lacks comprehensive studies in both adult and pediatric populations. This study aims to define and compare RBNs' prevalence, characteristics, and ultrasound features in adult and pediatric patients with NF1.

Methods: This prospective study involved 118 patients (92 pediatric patients and 26 adults) diagnosed with NF1. Clinical examinations combined with cutaneous ultrasound scans using linear multifrequency probes (L4-12t, L10-22, ML6-15, or L8-18 MHz) were performed in order to determine the prevalence, and clinical and sonographic characteristics of RBN in both populations. Statistical analyses were performed using t tests and chi-square tests.

Results: RBNs were found in 26.3% (31) of the patients after clinical examination, including 179 lesions. RBN prevalence differed significantly between pediatric (10.9%) and adult (66.7%) patients. Lesions were primarily on the trunk and exhibited similar clinical characteristics. Ultrasound reveals RBNs as hypoechoic, oval lesions with irregular borders. Our results show that pediatric RBNs are typically more superficial and hypoechogenic, while adult RBNs are deeper and more heterogeneous.

Conclusion: Ultrasound findings showed subtle differences in lesion depth, morphology, and echogenicity between these 2 age-related groups. These changes highlight ultrasound's role in identifying RBNs in patients with NF1 and monitoring their evolution.

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来源期刊
CiteScore
5.10
自引率
4.30%
发文量
205
审稿时长
1.5 months
期刊介绍: The Journal of Ultrasound in Medicine (JUM) is dedicated to the rapid, accurate publication of original articles dealing with all aspects of medical ultrasound, particularly its direct application to patient care but also relevant basic science, advances in instrumentation, and biological effects. The journal is an official publication of the American Institute of Ultrasound in Medicine and publishes articles in a variety of categories, including Original Research papers, Review Articles, Pictorial Essays, Technical Innovations, Case Series, Letters to the Editor, and more, from an international bevy of countries in a continual effort to showcase and promote advances in the ultrasound community. Represented through these efforts are a wide variety of disciplines of ultrasound, including, but not limited to: -Basic Science- Breast Ultrasound- Contrast-Enhanced Ultrasound- Dermatology- Echocardiography- Elastography- Emergency Medicine- Fetal Echocardiography- Gastrointestinal Ultrasound- General and Abdominal Ultrasound- Genitourinary Ultrasound- Gynecologic Ultrasound- Head and Neck Ultrasound- High Frequency Clinical and Preclinical Imaging- Interventional-Intraoperative Ultrasound- Musculoskeletal Ultrasound- Neurosonology- Obstetric Ultrasound- Ophthalmologic Ultrasound- Pediatric Ultrasound- Point-of-Care Ultrasound- Public Policy- Superficial Structures- Therapeutic Ultrasound- Ultrasound Education- Ultrasound in Global Health- Urologic Ultrasound- Vascular Ultrasound
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