Neurofibro matosis: Oral and radiographic manifestations

doi:10.1016/0030-4220(84)90350-5

Oral Surgery, Oral Medicine, Oral Pathology

Volume 58, Issue 4, October 1984, Pages 493-498

Oral Surgery, Oral M...

https://doi.org/10.1016/0030-4220(84)90350-5 Get rights and content

Abstract

Oral manifestations of neurofibromatosis have been reported in only 4% to 7% of affected persons. All oral tissues, hard and soft, have been reported to be affected with tumors, but the tongue has been the most common site. We report on the oral and radiographic findings in twenty-two patients with neurofibromatosis. The prevalence of oral and radiographic findings in our sample was 72%, which is much higher than previously reported. The five most common findings are oral neurofibromas, enlarged fungiform papillae, intrabony lesions, wide inferior alveolar canals, and enlarged mandibular foramina.

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Cited by (98)

Relative size of fungiform papillae in patients with neurofibromatosis Type 1
2023, Journal of Stomatology, Oral and Maxillofacial Surgery
To explore possible manifestations of neurofibromatosis on the tongue, especially, enlarged papillae fungiformes. According to the literature, enlarged fungiform papillae of the tongue are a very common oral finding in patients with Neurofibromatosis Type 1 (NF1).
Firstly, photos of 18 NF1 patients’ tongues, taken at different times were compared to rule of possible fluctuating papillae size. Secondly, 60 photos of 60 patients with NF1 were age/sex matched, blinded and compared to 60 photos of 60 healthy patients. Three independent medical doctors rated the photos in regard of the fungiform papillae as smaller/same/larger at two different times. The inter- and intraindividual results were compared.
Thirdly, fungiform papillae of 11 NF1 patients were quantitatively measured using the Denver protocol.
The fungiform papillae showed a stable size. The comparison of the healthy individuals to the NF1 patients suggests that the larger papillae are significantly more frequent in NF1 patients than in age- and gender-matched non-NF1 individuals. The agreement between two ratings of each of the 3 raters at different time points was two moderate and one substantial, the agreement among raters was only fair, since the Fleiss’ Kappa value of all 6 ratings was 0.38.
Although this study confirms that the evaluation of the size of the fungiform papillae by visual inspection only is very subjective, the fungiform papillae in NF1 patients do seem to be enlarged at a statistically significant level. Nonetheless the statistical difference is not distinctive enough to establish this as a diagnostic tool in diagnosing NF1.
Facilitating the diagnosis of NF1 is an important factor in finding the correct treatment for these patients. A clinical inspection of the tongue is a simple and non-invasive procedure. This paper addresses the question if an inspection of the tongue, especially the fungiform papillae is a reliable indicator for the diagnosis of NF1.
Evaluation of the sense of taste and smell in patients with Neurofibromatosis Type 1
2023, Journal of Stomatology, Oral and Maxillofacial Surgery
The objective of this study was to determine if patients with Neurofibromatosis Type 1 (NF1) have an impaired sense of smell or taste. Neurofibromin, the NF1gene protein product is ubiquitous in the body and is especially associated with the development of neurogenetic structures. Lately enlarged olfactory bulbs have been described in patients with NF1. Until now, there is no study to evaluate the sense of smell and taste in patients with NF1.
This study has been approved by the Hamburg Ethics committee. An evaluation of the sense of smell and taste was undertaken in 26 patients with NF1 using the Burghart Sniffin’ Sticks. Three patients were excluded due to a prior infection with the Corona virus. As a control group the same examination was performed in healthy individuals (same sex/ same age as the NF1 patients) by the same examiner.
The results show a normal sense of smell in patients with NF1. The morphologic finding of enlarged olfactory bulbs seem to have no functional equivalent. However, 8 out of 23 patients with NF1 had difficulties identifying at least one taste flavor. In total 9.8% of possible taste qualities were misidentified. In the healthy control group, all taste qualities were identified correctly. Considering each taste quality as separate case, a significant difference in the taste function was identified based on Fisher's exact test (p=0.003).
The current study does not show a correlation between NF1 and an impaired sense of smell. Yet significant reduction in the sense of taste was found in the patients with NF1. Further research will have to be conducted to find the underlying causal pathways.
NF1 is recently being acknowledged not only for its’ macroscopic aesthetic and functional impairments, but also as a neurodevelopmental disorder. Evaluating the neural structures in regard to their function is a first step in understanding more about the disease.
Multifocal intraoral nodules
2022, Journal of the American Dental Association
A case of intramandibular neurofibroma resembling a radicular cyst in a neurofibromatosis type 1 patient
2021, International Journal of Surgery Case Reports
Neurofibromatosis is a disease that causes various abnormalities such as neurofibroma, mainly in the skin and nerves. The common sites in the oral cavity are the palate, gingiva, tongue, buccal mucosa, and lips but, occurrence in the mandible is rare.
A 26-year-old woman was referred to our clinic because of percussion pain. Radiographic findings showed a radiolucent area. The patient was clinically diagnosed with a radicular cyst by a previous doctor. Multiple café-au-lait spots were found disseminated on her body, and she had already been prenatally diagnosed with neurofibromatosis type 1 (NF1). We performed a biopsy and suggested a neurofibroma. Tumor extirpation was performed under general anesthesia. The histopathological diagnosis showed a neurofibroma.
NF1 is a systemic nevus that causes abnormalities in melanocytes and Schwann cells, and various lesions appear, but intramandibular lesions are extremely rare. Diagnosis of NF1 and radicular cysts in the mandible is difficult due to their image resemblance. However, it should be kept in mind if the underlying disease is NF1. In our case, it was easy to detach and may have originated from small peripheral nerve endings in the mandible.
Supernumerary teeth of permanent dentition in patients with neurofibromatosis type 1
2020, Journal of Cranio-Maxillofacial Surgery
Citation Excerpt :
However, the majority of radiological studies on NF1 findings of the skull report a large number of skeletal and dental findings, but they do not mention ST in this patient group (Friedrich et al., 2003; Friedrich and Reul, 2017). The data of Shapiro et al. (1984) do not allow conclusions about the type of ST. One report detailed ST without apparent FPNF in this region (Freeman and Standish, 1965), three other case reports describe supernumerary molars on the jaw side in which an FPNF had developed (Rittersma et al., 1972; Westphal and Koblin, 1977; Neville et al., 1991). One case report describes a supernumerary maxillary incisor (Rushton, 1944).
The purpose of the study was the investigation of supernumerary teeth (ST) in the permanent dentition of patients with neurofibromatosis type 1 (NF1).
The panoramic radiographs of 200 NF1 patients were analysed for ST. The potential impact of certain neurogenic facial tumours on the measured variable was investigated separately. The results were compared to dental findings in panoramic radiographs of 200 age- and sex-matched controls.
The total number of ST in all individuals was 23 in 12 patients (3% of total population). However, all ST had developed in the group of NF1 patients (6%), (p = 0.0004). ST were particularly common distal to the molar region. Although ST occur in the region of facial plexiform neurofibroma, the numerical aberrations of the dentition are independent of specific type of facial nerve sheath tumour.
The unusual accumulation of ST in the terminal sections of molar development could be an indicator of preferred points of developmental disorder, in which the genetic predisposition of the patient is involved. Reviewing the results of other NF1 patient collectives is desirable.
A combination of skeletal deformations of the dorsal mandible and temporomandibular region detected in orthopantomograms of patients with neurofibromatosis type 1 indicates an associated ipsilateral plexiform neurofibroma
2018, Journal of Cranio-Maxillofacial Surgery
Neurofibromatosis type 1 (NF1) is a tumour suppressor syndrome and also a bone disease. In the craniofacial region, local skeletal deformities have been recorded in patients with NF1. Obvious syndrome-related alterations of the jaws are particularly conspicuous in the mandible. Here we aimed to analyse the mandibular alterations of NF1-affected individuals from orthopantomograms (OPGs).
This study analyses 358 OPGs of 358 patients (mean age, 34.63 years; range, 12.57–69.13 years). The OPGs of 179 patients of Caucasian origin with NF1 were investigated (mean age, 34.84 years; range, 12.83–68.89 years; 44.13% male, 55.86% female). The radiographic findings were compared to those obtained from OPGs of sex- and age-matched controls.
Characteristic deformations of the bone regions of interest occur in NF1 patients, especially in patients with plexiform neurofibroma of trigeminal nerve. These findings are always one-sided. The co-occurrence of several skeletal deformations can be expected with very high probability in this patient group.
The radiological sign of the unilateral deformed mandible should be included in the diagnostic criteria for NF1. In addition to the diagnostic value in this syndrome, these findings are important for avoiding surgical complications in planned interventions in this region.

View all citing articles on Scopus

^*: Division of Clinical Genetics, Department of Pediatric Dentistry, UTHSCSA.

^**: Department of Dental Diagnostic Science, UTHSCSA.

^***: Section of Medical Genetics, Baylor College of Medicine.

View full text

Neurofibro matosis: Oral and radiographic manifestations

Abstract

Oral Surg

Oral Surg

Br J Oral Surg

J Am Dent Assoc

J Maxillofac Surg

J Oral Surg

Beitr Klin Chir

U¨ber die multiplen Fibroma der Haut und ihre Bezielung zu den multiplen Neuromen

A treatise on the pathology, diagnosis, and treatment of neuroma

Die Krankhaften Geschwulste

Das ranken-neurom

Arch Pathol Anat Physiol

On three peculiar cases of molluscum fibrosum

Med Chir Trans

Oral diagnosis, oral medicine, and treatment planning

Von Recklinghausen's neurofibromatosis

N Engl J Med

Syndromes of the head and neck

Recognizable patterns of human malformation

Early manifestations of neurofibromatosis: diagnosis and management

Compr Ther

A clinical, pathological, and genetic study of multiple neurofibromatosis

Skeletal lesions in neurofibromatosis

Radiology

Von Recklinghausen's disease: incidence of roentgenographic findings with a clinical review of the literature

CRC Crit Rev Diagn Imaging

Bone changes in orbital neurofibromatosis

Br J Radiol

Cranial and intracranial lesions in neurofibromatosis

Am J Roentgenol

Calvarial bone defects involving the lambdoid suture in neurofibromatosis

Br J Radiol

Calvarial bone defects in neurofibromatosis: a case report

Am J Roentgenol

Genetic diseases of the skin