Routine Excision, Rare Diagnosis: Solitary Neurofibroma Prompting NF1 Screening in an Adolescent
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.
Authors
- Manal Alquaimi (ORCID: https://orcid.org/0000-0002-8788-5619)
Institutions
- King Faisal University (SA)
Publication Details
- Journal
- The Application of Clinical Genetics
- Published
- 2026-02-01
- DOI
- https://doi.org/10.2147/tacg.s549653
- Primary Topic
- Neurofibromatosis and Schwannoma Cases
- Type
- article
- Field-Weighted Citation Impact
- 0.00