Unveiling the Spectrum: Diverse Presentations of Neurofibromatosis Type 1 in a Case Series Exploration

Abstract

Neurofibromatosis type 1 (NF-1) is an autosomal dominant genetic disorder characterized by multisystem involvement and a predisposition to tumor development due to mutations on chromosome 17 (17q11.2). This case series provides a comprehensive examination of five individuals diagnosed with NF-1, showcasing the diverse clinical manifestations ranging from dermatological signs like café-au-lait spots and neurofibromas to ocular findings including Lisch nodules and optic pathway gliomas. The series emphasizes the variability in symptom presentation, the challenges in diagnosing and managing NF-1, and the need for a multidisciplinary approach. Each case underscores the critical importance of early recognition and lifelong monitoring to manage complications effectively. This study contributes to the understanding of NF-1's impact on patient lives and highlights the necessity for ongoing research to explore targeted therapeutic interventions.