Neurofibromatosis type 1 associated with bilateral central giant cell granuloma of the mandible

Freire-Maia, Belini

doi:10.1016/j.jcms.2010.10.014

Cited by 26 publications

(41 citation statements)

References 57 publications

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“…This is a tumor suppressor gene. 1-3 NF-1 is characterized by the presence of café-au-lait macules, peripheral neurofibromas, Lisch nodules, axillary freckling, skeletal dysplasia, and optic gliomas. Also, bone abnormalities – such as bowing deformities, pathological fractures, and pseudoarthrosis of the long bones – may occur in NF-1 due to basic mesodermal dysplasia.…”

Section: Discussionmentioning

confidence: 99%

“…It normally presents as a soft tissue purplish-red nodule consisting of multinucleated giant cells in a background of mononuclear stromal cells and extravasated red blood cells. 1-10 We report a 35-year-old mulatto female patient with neurofibromatosis Type 1 who presented with facial asymmetry and had florid cemento-osseous dysplasia and PGCG.…”

Section: Introductionmentioning

confidence: 99%

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Florid cemento-osseous dysplasia and peripheral giant cell granuloma in a patient with neurofibromatosis 1

Sarmento

Carvalho

Filho

et al. 2017

An. Bras. Dermatol.

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We report a 35-year-old mulatto female patient with neurofibromatosis Type 1 who presented with facial asymmetry. The patient had two lesions: florid cemento-osseous dysplasia associated with peripheral giant cell granuloma. She was referred for surgical treatment of the peripheral giant cell granuloma and the florid cemento-osseous dysplasia was treated conservatively by a multidisciplinary team. So far, no changes have been observed in the patient's clinical status. We observed no recurrence of peripheral giant cell granuloma. To the best of our knowledge, the present case is the first report of a patient with neurofibromatosis Type 1 associated with a giant cell lesion and florid cemento-osseous dysplasia.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Florid cemento-osseous dysplasia and peripheral giant cell granuloma in a patient with neurofibromatosis 1

Sarmento

Carvalho

Filho

et al. 2017

An. Bras. Dermatol.

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“…Another sporadic case has been reported in an 18 years old girl, associated with neurofibromatosis type 1 [3]. Finally, another case of bilateral CGCG of the mandibular angle was reported in a 8 years old female with Noonan’s syndrome [4].…”

Section: Main Textmentioning

confidence: 99%

“…Table 1 shows the summary of the differences between Cherubism and idiopathic CGCG lesions that was followed in order to classify the lesion of the present cases. CGCG lesions may be associated with other disorders like Neurofibromatosis type 1 [3], gingival fibromatosis as well as Noonan’s syndrome [4], all of them are Rasopathies. Noonan syndrome is an autosomal dominantly inherited syndrome with variable expressivity.…”

Section: Main Textmentioning

confidence: 99%

Bilateral Central Giant Cell Granuloma of the mandibular angle in three females from the same family

et al. 2018

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In literature there are few reports about multiple CGCG. But this is the first report of bilateral CGCG of the mandibular angles in three females from the same family.This report describes three cases of females from the same family - a mother and two young daughters - with bilateral CGCG in their jaw angles. All the lesions were surgically removed and the histopathologic diagnosis was always identical: giant cell central granulomas, with patterns that were absolutely superimposable between them and with that of the mother.The hypothesis is that this presentation of CGCG may be defined as hereditary bilateral CGCG of the mandibular angles (or also, cherubism-like lesions).

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“…NF1 is characterized by the predisposition to benign and malignant tumors of the peripheral and central nervous system. NF1 patients may also exhibit noncancerous symptoms such as the presence of café-au-lait macules, axial freckling, learning disabilities, and skeletal dysplasia [2,3]. Clinically, NF1 patients exhibit skeletal congenital or developmental abnormalities, resulting in alterations in bone shape or size.…”

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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Neurofibromatosis type 1 associated with bilateral central giant cell granuloma of the mandible

Cited by 26 publications

References 57 publications

Florid cemento-osseous dysplasia and peripheral giant cell granuloma in a patient with neurofibromatosis 1

Florid cemento-osseous dysplasia and peripheral giant cell granuloma in a patient with neurofibromatosis 1

Bilateral Central Giant Cell Granuloma of the mandibular angle in three females from the same family

An Osteoblast Origin for Craniofacial Dysplasia in Neurofibromatosis Type I

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