Abstract

ABSTRACT
Background
Neurofibromatosis type 1 (NF1) is a rare, autosomal dominant neurocutaneous disorder characterized by multiple benign peripheral nerve sheath tumors (neurofibromas), along with various cutaneous, ocular, and skeletal manifestations. Although this is not the first case report of this disorder, increased public awareness is crucial. The patient herself lacked information about her condition, despite it affecting her everyday life and being passed down to her children.

Case presentation
Here, we report the case of a 60-year-old female who presented with numerous cutaneous nodules on her face, trunk, and extremities. These were accompanied by café-au-lait macules and axillary freckling. The initial changes were first noticed after the birth of her daughter and gradually progressed over the years. A detailed family history revealed similar cutaneous features in both the patient’s late mother and daughter, raising suspicion of an inherited pattern. The diagnosis of NF1 was established based on the National Institutes of Health diagnostic criteria, as the patient had more than two defining clinical features.

Conclusion
This case highlights the significance of a thorough clinical evaluation, detailed family history, and early diagnosis in managing patients with neurofibromatosis type 1.

Key words: Neurofibromatosis type 1 (NF1), neurofibromas, café-au-lait-macules