# Prevalence of Oral Alterations and Correlation Between Oral and Cutaneous Neurofibromas in Neurofibromatosis Type 1: A Retrospective Case–Control Study

**Authors:** Pâmella de Pinho Montovani, Gabriela Pizão Werneck Moreira da Costa, Rafaela Elvira Rozza‐de‐Menezes, Karin Soares Cunha

PMC · DOI: 10.1111/jop.70056 · Journal of Oral Pathology & Medicine · 2025-09-17

## TL;DR

This study found that people with Neurofibromatosis Type 1 have more oral changes and a link between mouth and skin tumors.

## Contribution

The study identifies specific oral alterations and their correlation with cutaneous neurofibromas in NF1 patients.

## Key findings

- Oral mucosal alterations and exostoses were significantly more common in NF1 individuals.
- Enlarged fungiform papillae and oral neurofibromas were the most frequent oral changes in NF1.
- Oral and cutaneous neurofibromas counts were correlated in NF1 patients.

## Abstract

The aim of this study was to determine the prevalence of oral alterations detectable through physical examination in NF1 individuals. Additionally, we assessed the correlation between the number of oral and cutaneous neurofibromas.

This retrospective study evaluated oral alterations in individuals with and without NF1. In the NF1 group, associations between oral and cutaneous neurofibromas, age, sex, pregnancy, and family history of NF1 were assessed.

A total of 327 participants were evaluated (81 with NF1 and 246 controls). Oral mucosal alterations (92.6% vs. 79.3%) and exostoses (12.3% vs. 4.5%) were significantly more prevalent in the NF1 group. The most frequent oral alterations were enlarged fungiform papillae (46.9% vs. 8.1%), coated tongue (45.7% vs. 29.3%), neurofibromas (38.3% versus none), physiological melanin pigmentation (30.9% vs. 10.6%), and exostoses (12.3% vs. 4.5%). Oral neurofibromas were more prevalent in older individuals, without a family history of NF1, and those with multiple cutaneous neurofibromas.

Enlarged fungiform papillae and oral neurofibromas are the most common oral alterations detectable through physical examination in NF1. Coated tongue, physiological melanin pigmentation, and exostoses were also more frequent in NF1. The number of oral and cutaneous neurofibromas is correlated. These findings underscore the necessity of regular oral assessments in NF1 individuals.

## Linked entities

- **Diseases:** Neurofibromatosis Type 1 (MONDO:0018975)

## Full-text entities

- **Genes:** NF1 (neurofibromin 1) [NCBI Gene 4763] {aka NFNS, VRNF, WSS}
- **Diseases:** Oral and Cutaneous Neurofibromas (MESH:D009455), Neurofibromatosis Type 1 (MESH:D009456)
- **Chemicals:** melanin (MESH:D008543)

## Full text

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## Figures

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## References

12 references — full list in the complete paper: https://tomesphere.com/paper/PMC12774568/full.md

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Source: https://tomesphere.com/paper/PMC12774568