Diagnosis, treatment management, and challenges in neurofibromatosis type 1: a case report with mixed features

Neurofibromatosis type 1 (NF1) is a prevalent genetic disorder; however, the incidence of plexiform neurofibromas remains relatively low. This article presents a case of mixed-type NF1 with plexiform neurofibroma.

Following domestic and international expert consensus, a multidisciplinary team conducted a comprehensive evaluation and formulated an individualized treatment plan. Although the diagnosis of NF1 was confirmed, the precise origin of the massive superficial mass in the child remains uncertain.

This study provides a comprehensive exploration of the clinical manifestations and theoretical underpinnings that facilitate the precise diagnosis, treatment, and long-term management of patients with NF1.

In conclusion, the clinical management of pediatric NF1 patients is complex as therapeutic interventions are not for all. Due to heterogeneous manifestations and variable disease trajectories, there is no standardized treatment algorithm. Integrating molecular diagnostics, targeted therapies, and multidisciplinary care is crucial for personalized and effective long - term management of those with this genetic disorder.