Unilateral severe gynecomastia in a 14 year-old adolescent with neurofibromatosis type 1 undergoing endoscopic mastectomy: a case report

TL;DR

A 14-year-old boy with neurofibromatosis type 1 developed severe gynecomastia, which was treated with endoscopic mastectomy and confirmed with genetic and histological analysis.

Contribution

This case report presents a rare instance of unilateral gynecomastia in a young NF-1 patient and demonstrates successful minimally invasive treatment.

Findings

Endoscopic mastectomy successfully treated unilateral gynecomastia in a 14-year-old with NF-1.

Immunohistochemical analysis confirmed the presence of neurofibroma type 1.

The c.1431del: p.F477Lfs*21 mutation was identified in the patient based on family history.

Abstract

Gynecomastia can be caused by neurofibromas but has rarely been reported. The present case report describes the clinical appearance, diagnosis, and therapy of a rare combination of a 14 year-old adolescent male unilateral severe gynecomastia with NF-1 neurofibromatosis. In this particular case, we successfully performed minimally invasive surgery using endoscopic mastectomy, which not only resulted in a satisfactory appearance but also confirmed the presence of neurofibroma type 1 by detecting typical immunohistochemical indicators associated with the disease. Additionally, we analyzed the gene responsible for the disease, c.1431del: p. F477Lfs*21, based on the patient’s family history.

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