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

Tecco, Simona; Caruso, Silvia; Nota, Alessandro; Leocata, Pietro; Cipollone, Gianluca; Gatto, Roberto; Cutilli, T

doi:10.1186/s13005-018-0171-7

Cited by 12 publications

(20 citation statements)

References 21 publications

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“…This knowledge of the variable phenotype of cherubism and cherubism-like entities underscores the importance of identifying the monogenetic basis of cherubism in the differential diagnosis of multiple osteolytic lesions of the jaw with prominent giant cells. Likewise, the presentation of a phenotype of bilateral mandibular CGCG that is almost identical over three generations does not provide evidence of an independent syndrome if a genetic test to rule out known syndromes is not carried out (146).…”

Section: Importance Of Cgcg In the Diagnosis Of Jcs In Nf1mentioning

confidence: 99%

Neurofibromatosis Type 1 With Cherubism-like Phenotype, Multiple Osteolytic Bone Lesions of Lower Extremities, and Alagille-syndrome: Case Report With Literature Survey

Friedrich

Zustin

Luebke

et al. 2021

In Vivo

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Background/Aim: Neurofibromatosis type 1 (NF) is an autosomal dominant hereditary disease. The cardinal clinical findings include characteristic skeletal alterations. Difficulties in diagnosis and therapy can arise if an individual has further illnesses. Case Report: This is a case report of a 16-year-old patient affected by NF1. She also suffered from Alagille syndrome and the consequences of fetal alcohol exposure. The patient's facial phenotype showed findings that could be assigned to one or more of the known diseases. The patient was referred for treating a cherubismlike recurrent central giant cell granuloma (CGCG) of the jaw. The patient developed bilateral, multilocular nonossifying fibromas (NOF) of the long bones of the lower extremity. Treatment of the skeletal lesions consisted of local curettage. While NOF regressed after surgery, the CGCG of the jaw remained largely unchanged. Extensive genetic tests confirmed a previously unknown germline mutation in the JAG1 gene, the germline mutation of the NF1 gene, and the somatic mutation in the NF1 gene in the diffuse plexiform neurofibroma, but not in the CGCG. Conclusion: Assigning facial findings to a defined syndrome is ambiguous in many cases and especially difficult in patients who have multiple diseases that can affect the facial phenotype. Surgical therapy should be adapted to the individual findings.Neurofibromatosis type 1 (NF1) is an autosomal dominant inherited disorder (1). The disease has a high penetrance (about 100%). However, the phenotype is extremely variable (2). The NF1 gene is located on chromosome 17q11.2 (3, 4). NF1 is a tumor suppressor gene syndrome (5) and the most common monogenetic disease predisposing to cancer (1). NF1 is primarily characterized by multiple skin tumors. The tumors are of neurogenic origin termed neurofibroma. Somatic mutations of NF1 gene in neurofibroma arise in Schwann cells or precursors of Schwann cells. Since Schwann cells originate from the neural crest, NF1 is rated among the diseases that are characterized by mutations in neural crest cells (6). The frequent and numerous neoplasms of NF1 patients arise primarily from the connective soft tissues. Genetic studies show that many of the different neoplasms arising in NF1 patients meet the criteria of somatic allelic loss of NF1 gene according to Knudson's two-hit hypothesis of tumor development (7). However, the unusual variety of symptoms and findings in NF1 patients go far beyond the spectrum of neoplastic lesions (1). Most cases are diagnosed by clinical examination (Table I). Diagnosis and treatment of NF1 patients can be made more difficult if other diseases develop in the same individual and 1711 This article is freely accessible online.

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Section: Importance Of Cgcg In the Diagnosis Of Jcs In Nf1mentioning

confidence: 99%

Neurofibromatosis Type 1 With Cherubism-like Phenotype, Multiple Osteolytic Bone Lesions of Lower Extremities, and Alagille-syndrome: Case Report With Literature Survey

Friedrich

Zustin

Luebke

et al. 2021

In Vivo

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“…However, cases of bilateral involvement have also been described. [6] According to their location, giant cell tumours can be classified as central and peripheral. Based on literature data, higher RANKL expression in the central variants is found, which explains their clinical behaviour.…”

Section: Introductionmentioning

confidence: 99%

A rare case of a giant cell tumour caused by vitamin D deficiency

Neychev¹,

Pilichev²,

Serteva³

et al. 2022

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Reparative giant cell granulomas are benign masses of multi-etiological nature, which account for 1%–7% of all benign lesions of the jaws. The objective of this case report is to present the relationship between isolated vitamin D deficiency and the development of reparative giant cell granuloma. Herein, we present the case of a 70-year-old female patient with a painless mass of increased mobility in the mandibular region, and pain in the involved teeth. After histological confirmation and laboratory screening, а reparative giant cell granuloma caused by serious deficiency of vitamin D3 - (25-OH)D was diagnosed. The treatment protocol included surgical removal of the lesion and vitamin D replacement therapy. In rare cases, this type of lesion can be a primary manifestation of vitamin D deficiency; therefore, it is extremely important to be aware of this pathology.

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“…A lesão de células gigantes se diferencia como lesão central, quando é endosteal, ou periférica, quando envolve o periósteo (Spini et al, 2019). A lesão central de células gigantes, também conhecida como granuloma central de células gigantes é considerada como sendo uma lesão não neoplásica (Neville et al, 2009), que é constituída por tecido fibroso com focos múltiplos de hemorragia, agregação de células gigantes multinucleadas e, em alguns casos, trabéculas de tecido ósseo (Bocchialini et al, 2019;Loureiro et al, 2019;Tecco et al, 2018).…”

Section: Introductionunclassified

“…A lesão central de células gigantes acomete frequentemente a região central da mandíbula, cruzando a linha média, e corresponde a 7% de todas as lesões benignas dos maxilares (Lima et al, 2019;Loureiro et al, 2019;Tecco et al, 2018;Wang et al, 2019). Embora possa afetar uma grande faixa etária, é mais comum de se observar em pacientes entre 2 e 30 anos de idade (Loureiro et al, 2019;Neville et al, 2009).…”

Section: Introductionunclassified

Tratamento cirúrgico e reconstrutivo de lesão central de células gigantes em mandíbula: Relato de caso

Júnior

França

Soares

et al. 2021

RSD

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Introdução: A lesão central de células gigantes, também conhecida como granuloma central de células gigantes é considerada como sendo uma lesão não neoplásica, que é constituída por tecido fibroso com focos múltiplos de hemorragia, agregação de células gigantes multinucleadas e, em alguns casos, trabéculas de tecido ósseo, acomete frequentemente a região central da mandíbula, cruzando a linha média, e corresponde a 7% de todas as lesões benignas dos maxilares. Embora possa afetar uma grande faixa etária, é mais comum de se observar em pacientes entre 2 e 30 anos de idade. Possui uma leve preferência pelo sexo feminino, com um pico de incidência na faixa etária entre 10 e 25 anos. Objetivo: Relatar o caso clínico, bem como discutir a abordagem terapêutica utilizada, de uma lesão central de células gigantes em mandíbula, que progrediu com piora após tratamento conservador proposto. Discussão: O tratamento das LCCG se dá tradicionalmente por remoções cirúrgicas seguidas ou não de curetagem. Há também medidas suplementares, como a criocirurgia ou osteotomia periférica. Em casos onde grandes mutilações são previsíveis, é possível lançar mão de tratamentos alternativos, como as injeções intralesional de corticosteroides, calcitonina, subcutânea ou nasal, interferon al fa-2ª subcutânea, imatinib e bifosfonatos. Considerações finais: O tratamento cirúrgico com ressecção parcial associada a reconstrução óssea com osso autógeno de crista ilíaca, se mostrou eficiente em casos de insucesso da terapêutica conservadora.

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

Cited by 12 publications

References 21 publications

Neurofibromatosis Type 1 With Cherubism-like Phenotype, Multiple Osteolytic Bone Lesions of Lower Extremities, and Alagille-syndrome: Case Report With Literature Survey

Neurofibromatosis Type 1 With Cherubism-like Phenotype, Multiple Osteolytic Bone Lesions of Lower Extremities, and Alagille-syndrome: Case Report With Literature Survey

A rare case of a giant cell tumour caused by vitamin D deficiency

Tratamento cirúrgico e reconstrutivo de lesão central de células gigantes em mandíbula: Relato de caso

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