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

Objective: 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.

Design: 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.

Results: 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.

Conclusions: 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.