Tongue neuroma in a pediatric patient

Abstract

Neurofibromatosis (NF) are rare genetic disease caused by pathogenic variants in certain genes, leading to a series of clinical manifestations such as neurofibromas. The most common type, NF1, is characterized by multiple neuromas anywhere on the body, brown stains, freckles in the axillary or inguinal regions, optic glioma, Lisch nodules, sphenoid dysplasia, and a dominant inheritance pattern. The case described here involves a 10-year-old male patient with NF1, whose parents and grandparents also had the same diagnosis. We observed intellectual deficit, scoliosis, kyphosis, café au lait spots all over the body, ephelides in the axilla, and a significant neuroma on the tongue. Three partial glossectomies were performed (2016/2023/2024) to remove the neuroma. This case aims to describe the manifestations and alterations present and the follow-up by a multiprofessional team.