Radiographic Findings in the Jaws of Patients With Neurofibromatosis 1

Visnapuu, Vivian; Peltonen, Sirkku; Tammisalo, T; Happonen, Risto‐Pekka

doi:10.1016/j.joms.2011.06.204

Cited by 41 publications

(45 citation statements)

References 10 publications

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“…Common signs of NF1 include multiple café-au-lait spots, axillary and inguinal freckling, multiple discrete dermal neurofibromas, learning disabilities, Lisch nodules, and an increased risk of a variety of benign and malignant tumors. Dental and jaw abnormalities including increased caries, premature tooth eruption, an enlarged mandibular foramen, a wide and branching inferior alveolar canal, and periapical cemental dysplasia have been reported [4]. Skeletal abnormalities occur in nearly half of NF1 patients.…”

Section: Introductionmentioning

confidence: 99%

Cephalometry in adults and children with neurofibromatosis type 1: Implications for the pathogenesis of sphenoid wing dysplasia and the “NF1 facies”

Cung

Freedman

Khan

et al. 2015

European Journal of Medical Genetics

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Background Neurofibromatosis type 1 (NF1) is a common, autosomal dominant tumor-predisposition disorder that arises secondary to mutations in the tumor suppressor gene NF1. Cephalometry is an inexpensive, readily available and non-invasive technique that is under-utilized in studying the NF1 craniofacial phenotype. An analysis of NF1 cephalometry was first published by Heervä et al. in 2011. We expand here on that first investigation with a larger cohort of adult and pediatric patients affected with NF1 and sought objective insight into the NF1 facies, said to feature hypertelorism and a broad nasal base, from cephalometric analysis. Methods We obtained cephalograms from 101 patients with NF1 (78 adults and 23 children) from two NF1 protocols at the National Institutes of Health. Each subject had an age-, gender- and ethnicity-matched control. We used Dolphin software to make the cephalometric measurements. We assessed the normality of differences between paired samples using the Shapiro-Wilk test and evaluated the significance of mean differences using paired t-tests and adjusted for multiple testing. We explored the relationship between the cephalometric measurements and height, head circumference and interpupillary distance. Results In this dataset of American whites with NF1, we confirmed in a modestly larger sample many of the findings found by Heerva et al. in an NF1 Finnish cohort. We found a shorter maxilla, mandible, cranial base, (especially anteriorly, p = 0.0001) and diminished facial height in adults, but not children, with NF1. Only one adult exhibited hypertelorism. Conclusions The cephalometric differences in adults arise in part from cranial base shortening and thus result in a shorter face, mid-face hypoplasia, reduced facial projection, smaller jaw, and increased braincase globularity. In addition, we suggest that NF1 sphenoid bone shortening, a common event, is consistent with an intrinsic NF1 bone cell defect, which renders the bone more vulnerable to a random “second hit” in NF1, leading to sphenoid wing dysplasia, a rare event.

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Section: Introductionmentioning

confidence: 99%

Cephalometry in adults and children with neurofibromatosis type 1: Implications for the pathogenesis of sphenoid wing dysplasia and the “NF1 facies”

Cung

Freedman

Khan

et al. 2015

European Journal of Medical Genetics

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“…We find significant and robust changes in the nasal region of Nf1ob-/-mice. This pattern of deformed frontal midface region of the skull in Nf1ob-/-mice parallels the quantitative changes in the analogous structures in human NF1 craniofacial skeleton resulting in unilateral proptosis of an eye and facial asymmetry [12][13][14][15][16][17][18][19][20][21][22][23][24][25][26]. NF1 patients often exhibit macrocephaly.…”

Section: Bmentioning

confidence: 72%

“…Other craniofacial findings have been reported in NF1 including a widening of inferior alveolar canal, an enlarged mandibular foramen, and a reduction in mandibular angle. In rare cases plexiform Neurofibromas have been reported to be associated with impacted teeth and deformed alveolar ridge while optic nerve gliomas have been associated with orbit defects [12][13][14][15]. NF1 patients may also display generalized defects in bone metabolism and bone turnover, resulting in osteoporosis in up to one half of affected individuals [16,17].…”

Section: Introductionmentioning

confidence: 99%

An Osteoblast Origin for Craniofacial Dysplasia in Neurofibromatosis Type I

Bamaga¹,

O'Sullivan²,

Schmitz³

et al. 2017

JDHODT

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Sphenoid wing dysplasia (SWD), which results in a craniofacial deformity, is the third most common skeletal deformity in Neurofibromatosis Type I (NF1) patients. A neurofibromin osteoblast conditional deletion mouse model (Nf1ob-/-) has been developed to study the skeletal abnormalities in NF1. No overt morphological phenotype is seen in the appendicular or axial skeleton of these mice. Nf1ob-/-mice have been shown to have increased bone porosity and lower bone density. We noted a progressive craniofacial deformity, which results in cranial asymmetry, malocclusion and unilateral proptosis of an eye. To assess this deformity, we employed micro-computed tomography (µCT) and geometric morphometric analysis to compare Nf1ob-/-mouse skulls to control animals. Landmarks were placed on the images at 13 biologically relevant cranial anatomical sites. Analysis of distances and angles between these landmarks revealed that there is significant variation between the Nf1ob-/-mice and controls. We found that the nasal and frontal bones of Nf1ob-/-mice skulls are deviated from the central line, whereas it was straight in controls. The nasal region is tipped downward in Nf1ob-/-mice. We also noted that the cranium shows a trend toward macrocephaly in Nf1ob-/-mice whereas other measurements were within the range of normal control mice. These differences correspond to those seen in craniofacial dysplasia and SWD in NF1 patients. No tumors were found associated with the craniofacial dysplasia in Nf1ob-/-mice. Our results identify a primarily osteoblast origin for the pathogenesis of craniofacial dysplasia in Nf1ob-/-mice and strongly support an osteoblast origin for SWD in NF1. In addition, we identify and validate a novel mouse model with which to explore molecular mechanisms and test preventative treatments for SWD in NF1.

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“…Many multisystemic complications such as cerebral tumors or vasculopathies could lead to death [1,2]. Oral and maxillofacial manifestations may also be found in patients with NF1, such as gingival enlargement and pigmentation, oral and perioral neurofibroma, osseous lesions of the maxilla or the mandible, and dental abnormalities [3][4][5][6][7][8][9][10][11][12].…”

Section: Introductionmentioning

confidence: 99%

Neurofibromatosis type I and supernumerary teeth: up-to date review and case report

Cervellera

Dissaux³

2016

Med Buccale Chir Buccale

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-Introduction: Neurofibromatosis type I (NF1) is a genetic disease that may involve oral manifestations such as supernumerary teeth. Case report: A 17-year-old male patient with NF1 was referred by an orthodontist for avulsion of wisdom teeth and six supernumerary teeth. Ten teeth were removed under general anesthesia in December 2015. Discussion: Management of supernumerary teeth is very controversial and patient care of NF1 is complex. Conclusion: Even though the presence of supernumerary teeth in cases of NF1 is not well-known, patient care is extremely important and requires a team of specialists.Résumé -Les dents surnuméraires dans la neurofibromatose de type I : cas clinique et revue de la littéra-ture. Introduction : La neurofibromatose de type I est une maladie génétique qui peut induire des manifestations orales comme la présence de dents surnuméraires. Observation clinique : Un homme de 17 ans présentant une NF1 a été adressé par son orthodontiste pour l'avulsion de ses dents de sagesse et 6 dents surnuméraires. Les 10 dents ont été extraites sous anesthésie générale en décembre 2015. Discussion : La prise en charge des dents surnuméraires est très controversée et la prise en charge des patients atteints de NF1 est complexe. Conclusion : Même si la présence de dents surnuméraires chez les patients atteints de NF1 est mal connue, la prise en charge de ces patients est très importante et une équipe pluridisciplinaire est nécessaire.

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Radiographic Findings in the Jaws of Patients With Neurofibromatosis 1

Cited by 41 publications

References 10 publications

Cephalometry in adults and children with neurofibromatosis type 1: Implications for the pathogenesis of sphenoid wing dysplasia and the “NF1 facies”

Cephalometry in adults and children with neurofibromatosis type 1: Implications for the pathogenesis of sphenoid wing dysplasia and the “NF1 facies”

An Osteoblast Origin for Craniofacial Dysplasia in Neurofibromatosis Type I

Neurofibromatosis type I and supernumerary teeth: up-to date review and case report

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