Neurofibromatosis is a group of genetic disorders affecting the growth and development of nerve cells, leading to the formation of benign tumors called neurofibromas. The two most common types are neurofibromatosis type 1 (NF1) and type 2 (NF2). This clinical vignette on neurofibromatosis aims to guide residents in recognizing and diagnosing this challenging condition. Through this case, users will learn about the clinical features of NF1 and NF2, their differential diagnosis, and appropriate diagnostic and management strategies.

This vignette is an excellent resource for residents preparing for OSCE-style examinations and can also be used as a self-directed learning tool for healthcare professionals seeking to enhance their knowledge and skills in managing neurofibromatosis.

We invite you to explore the associated learning module and quizzes to reinforce your knowledge and test your understanding of this important topic.

1. Korf BR, Lobbous M, Metrock LK. (2020). Neurofibromatosis type 1 (NF1): Pathogenesis, clinical features, and diagnosis. UpToDate. Retrieved November 29, 2021, from https://www.uptodate.com/contents/neurofibromatosis-type-1-nf1-pathogenesis-clinical-features-and-diagnosis
2. Tsao H, Luo S. (2018). Neurofibromatosis and Tuberous Sclerosis Complex. Bolognia, J.L., Schaffer, J.V., Cerroni, L (Eds.).  Dermatology (4th ed.) (pp 985-1003). Elsevier.
3. Photo courtesy of Wikipedia creative commons: https://commons.wikimedia.org/wiki/File:Neurofibroma02.jpg