Neurofibromatosis presenting with a cherubism phenotype

Capelle, Carine I. van; Hogeman, P. H. G.; Sijs-Bos, C. J. M. van der; Heggelman, Ben G F; Idowu, Bernadine; Slootweg, Pieter J.; Wittkampf, A. R. M.; Flanagan, Adrienne M.

doi:10.1007/s00431-006-0334-6

Cited by 34 publications

(18 citation statements)

References 31 publications

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“…Cherubism has also been reported in association with NF1 (Martínez-Tello et al, 2005;Friedrich et al, 2007;van Capelle et al, 2007) and Noonan-like/ multiple giant cell lesion syndrome, and also with multiple osteolytic polyostotic bone lesions (Cohen and Gorlin, 1991;Addante and Breen, 1996). However, the clinical presentation, radiographic findings, and histologic appearance of the central mandibular in the present lesions were consistent with CGCG.…”

Section: Discussionsupporting

confidence: 39%

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

Freire-Maia

2011

Journal of Cranio-Maxillofacial Surgery

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Section: Discussionsupporting

confidence: 39%

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

Freire-Maia

2011

Journal of Cranio-Maxillofacial Surgery

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“…It may be sporadic or inherited as an autosomal dominant trait and occurs between one in 1000-2500 [30][31][32]. The Ramon syndrome consists of mental deficiency, epilepsy, cherubism, gingival fibromatosis, hypertrichosis, stunted growth and juvenile rheumatoid arthritis [33,34]. The rare cases with NF1 association have shown multiple mutations (NF1, SH3BP2, PTPN11) [35,36].…”

Section: Fibrous Dysplasiamentioning

confidence: 99%

Benign Fibro-Osseous Lesions of the Craniofacial Complex A Review

Eversole

El‐Mofty

2008

Head and Neck Pathol

276

357

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Benign fibro-osseous lesions of the craniofacial complex are represented by a variety of disease processes that are characterized by pathologic ossifications and calcifications in association with a hypercellular fibroblastic marrow element. The current classification includes neoplasms, developmental dysplastic lesions and inflammatory/reactive processes. The definitive diagnosis can rarely be rendered on the basis of histopathologic features alone; rather, procurement of a final diagnosis is usually dependent upon assessment of microscopic, clinical and imaging features together. Fibrous dysplasia and osteitis deformans constitute two dysplastic lesions in which mutations have been uncovered. Other dysplastic bone diseases of the craniofacial complex include florid osseous dysplasia, focal cemento-osseous dysplasia and periapical cemental dysplasia, all showing a predilection for African descent individuals; although no specific genetic alterations in DNA coding have yet to be uncovered and most studies have been derived from predominant high African descent populations. Ossifying fibromas are neoplastic lesions with four subtypes varying with regard to behavior and propensity for recurrence after surgical excision. The clinicopathologic and molecular features of this unique yet heterogeneous group of diseases are reviewed.

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“…Bilateral, cherubism-like giant-cell lesions of the jaws can be a clinical variant of Noonan-syndrome and neurofibromatosis, which are associated with mutations in tyrosineprotein phosphatase non-receptor type 11 (PTPN11), son of sevenless homolog 1 (SOS1) and neurofibromin 1 (NF1), respectively [67][68][69][70]. The association of cherubism-like lesions with these genetic variants may link defective SH3BP2- Figure 1 A model of signaling pathways involved in autoinflammatory bone diseases.…”

Section: Cherubismmentioning

confidence: 99%