Oral Clinical Manifestations of Neurofibromatosis Type 1 in Children and Adolescents

Abstract

<jats:p>Background: Neurofibromatosis 1 (NF1) is an autosomal dominant genetic disorder. The expression of NF1 is extremely variable considering the broad spectrum of mutations affecting the gene(s) responsible for the pathology. Aim: To investigate the prevalence of oral manifestations in a group of children affected by neurofibromatosis type 1. Design: 100 pediatric patients, with genetically confirmed NF1 were enrolled in this study and matched to a total of 100 healthy children. Clinical examination was used to investigate: dental caries, dental abnormalities, periodontal health, neurofibromas, malocclusions, and enamel defects. Results: Mann Whitney’s test concerning prevalence of dental caries resulted in a no significant difference between the two groups (p = 0.90); a significant difference was highlighted as regards the other kinds of manifestations as well: enamel defects (p = 0.01), neurofibromas (p = 0.0043) and poor oral hygiene (p = 0.0002) with a higher prevalence of these features in NF1 patients than healthy controls. Similar results come out, regarding dental abnormalities in which can observe a significant difference between shape anomalies (p &lt; 0.001). Conclusion: According to data obtained from the present study, it can be stated that NF1-related oral manifestations can be detected during childhood and adolescence. In particular for neurofibromas, enamel defects, shape anomalies, and poor oral hygiene.</jats:p>

Type I Neurofibromatosis: Case Report and Review of the Literature Focused on Oral and Cutaneous Lesions

“…Type I neurofibromatosis (NF1) is one of the most common genetic diseases and, given its genetic characteristic, affects individuals at a young age. Oral manifestations in relation to NF1 have been known for a long time, but their occurrence frequency was underestimated for a long period until recent studies increased their prevalence to around 70% of all NF1 individuals [ 2 , 4 , 6 , 10 , 15 ]. This article aimed to highlight the importance of oral examination when NF1 is suspected and to discuss neurofibromas as a potential differential diagnosis of oral nodules.…”

“…Other features of NF1 are mediastinal, spinal, and peripheral nerve neurofibromas, central nervous system tumors such as optic glioma, oral and maxillofacial abnormalities, neurologic or cognitive impairment, and vasculopathy. [ 4 , 5 , 6 , 7 ] Juvenile xanthogranulomas and nevus anemicus are present in 80% of NF1 patients under the age of two. Therefore, these clinical features appear to be useful to improve early NF1 diagnosis in infants who may not present enough diagnosis criteria at their early age.…”

“…They can appear anywhere on the skin; however, they are less common and numerous on the face [ 9 ]. Café au lait spots are present in 75% of children of 10 years affected by NF1 [ 6 ] and in 90% of NF1 adolescents and adults [ 9 ].…”

“…Oral and cranio-facial manifestations of NF1 are increasingly highlighted in the literature, especially in regard to intra-oral alterations whose prevalence is estimated to be around 70% in regard to recent studies [ 2 , 4 , 6 , 11 , 16 ], with no predilection for gender or race [ 11 ].…”

“…In rare cases, patients with NF1 may present melanin pigmentation of their gingiva [ 4 ]. Neurofibromas arising on the oral cavity are mostly involved with NF1 [ 6 ], however, sporadic neurofibromas unassociated with NF1 can also occur at the rate of 6.5% [ 14 , 17 ]. Moreover, independently of their association with NF1, oral neurofibromas exhibit similar histological features as neurofibromas occurring in other sites [ 14 ].…”