Segmental congenital solitary plaque on the shoulder: A rare presentation of neurofibromatosis type 1

Plexiform neurofibromas are congenital tumors strongly associated with neurofibromatosis (NF) type 1 but may rarely present in isolation without other diagnostic features. We report a case of a 50-year-old woman with a segmental hyperpigmented plaque over the right shoulder from birth, clinically suggestive of a solitary segmental plexiform neurofibroma. Histopathology confirmed the diagnosis, prompting further evaluation. Although she lacked café-au-lait macules, axillary freckling, or additional neurofibromas, ophthalmological examination revealed bilateral Lisch nodules, fulfilling the diagnostic criteria for NF1. This case highlights the diagnostic challenge of solitary segmental plexiform neurofibromas and the need for thorough systemic and ophthalmological assessment in atypical presentations. Early identification is essential for appropriate counseling, surveillance, and timely detection of complications such as malignant peripheral nerve sheath tumors.