Home LiteratureArticle Details
PMID: 41891121 Published · epublish English

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

The application of clinical genetics ·Vol. 19

Alquaimi MM

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.

Keywords
adolescent genetic screening histopathology neurofibromatosis type 1 plexiform neurofibroma solitary neurofibroma
Article Info
Journal
The application of clinical genetics
Abbr.
Appl Clin Genet
ISSN
1178-704X
Language
English
Country/Region
New Zealand
NLM ID
101579789
Analysis Services
Analysis Services

Contact

No. 2 Wenbo Road, Zhangqiu District, Jinan, Shandong

Qilu Normal University · Genelibs Bioinformatics Lab

750 Shunhua Rd, Jinan

2F, Bldg F, University Science Park

Tel: 0531-88819269

WeChat Official Account

Follow our WeChat subscription account for real-time updates and the latest in medical and biological research.


Business Email

E-mail: product@genelibs.com