Background: Neurofibromatosis type 1 (NF1) is a common autosomal dominant neurocutaneous disorder characterized by the development of multiple café-au-lait macules, neurofibromas, and a variety of systemic manifestations. Early diagnosis is crucial for surveillance and management due to its progressive nature and potential for complications such as malignant transformation.

Case presentation: We report the case of an 18-year-old female presenting with neurofibroma. The lesion extended from the infraorbital region to the inferior border of the mandible, involving the preauricular area and the corner of the mouth. It was distributed in a pattern resembling multiple scattered islands. The lesion was pigmented, exhibiting characteristics consistent with café-au-lait macules, and the patient had multiple similar lesions elsewhere on the body.This case highlights the classical features of NF1 in a young adult and underscores the variability in presentation. A comprehensive literature review is included, discussing the genetic basis, diagnostic criteria, imaging findings, complications and recent advances in targeted therapies including MEK inhibitors. The review also emphasizes the importance of long-term surveillance and psychosocial support.NF1 is a lifelong condition with diverse manifestations and significant clinical variability. Early diagnosis and multidisciplinary management are essential to monitor complications and improve patient outcomes. This case underscores the need for awareness among clinicians, especially in adolescents and young adults who may present with subtle or overlooked features.