Routine Excision, Rare Diagnosis: Solitary Neurofibroma Prompting NF1 Screening in an Adolescent

常规切除,罕见诊断:青少年孤立性神经纤维瘤促使进行NF1筛查

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Abstract

A solitary plexiform neurofibroma in a 15-year-old girl prompted an unexpected referral for neurofibromatosis type 1 (NF1) evaluation. Initially excised under the impression of a lipoma, the lesion's histopathology revealed neural origin features with strong S100 and CD34 positivity. Dermatologic examination uncovered multiple café-au-lait macules, and subsequent referral to neurology raised clinical suspicion for NF1. This case emphasizes how incidental histological findings in a benign-appearing lesion can serve as the first clinical clue of a genetic disorder, triggering appropriate multidisciplinary evaluation.

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