Cherubism in Saudi population: a rare case report / Querubismo na população Saudi: relato de um caso raro

Cherubism is a rare hereditary benign fibro-osseous disorder characterised by bilateral swelling of the mandible and/or maxilla with varying severity of involvement. It occurs because of dominant mutations in SH3BP2 gene on the chromosome 4p16.3. On radiography cherubic lesions appear as multilocular cystic radiolucencies in the jaw bones giving a soap bubble appearance. These lesions usually heal by themselves by the time the patient attains puberty. Treatment is necessary only in aggressive cases where there is severe facial deformity or vital functions are hampered. Surgical corrections are preferred when the lesion is in its dormant phase. The aim of the present case report is to illustrate a case of cherubism in a 9-year-old Saudi boy which is a very rare occurrence as only 1 case of cherubism has been reported so far in the Saudi Arabian population (AU)

Querubismo é uma desordem fibro-óssea hereditária rara caracterizada por aumento de volume bilateral da mandíbula e/ou maxila com graus variáveis de severidade. Ocorre devido a mutação dominante no gene SH3BP2 no cromossomo 4p16.3. Radiograficamente as lesões de querubismo aparecem como radiolucência multilocular semelhantes a bolhas de sabão nos ossos maxilares. Geralmente as lesões involuem espontaneamente quando o paciente atinge a puberdade. O tratamento se faz necessário apenas nos casos mais agressivos que demonstram deformidade facial severa ou comprometimento de funções vitais. Correções cirúrgicas são preferíveis quando a lesão está na fase dormente. O objetivo do presente relato é ilustrar um caso de querubismo em um paciente de 9 anos da Arábia Saudita, sendo este um evento raríssimo com apenas um outro caso relatado na população da Arábia Saudita (AU)

Angioid streaks and optic disc drusen in cherubism: a case report / Estrias angióides e drusas de disco óptico no Querubismo: um relato de caso

ABSTRACT A 65-year-old female patient was referred to our hospital for evaluation for cataract surgery. Her past medical history included corrective jaw surgeries for facial deformities that developed during infancy and persisted through early adulthood. A complete ophthalmological examination revealed bilateral angioid streaks, drusen in both optic disc areas, and a subretinal neovascular membrane in the left macula. Genetic analysis revealed a mutation in the SH3BP2 gene compatible with the diagnosis of cherubism. Clinical and laboratory evaluation revealed no additional systemic disorders. Cherubism is a rare disease characterized by the development of painless fibro-osseous lesions in the jaws and the maxilla in early childhood. Ophthalmologic findings in this disease are primarily related to orbital bone involvement. This is the first report of AS and optic disc drusen in a patient diagnosed with cherubism. Our findings suggest that angioid streaks and optic disk drusen should be included in the differential diagnosis of ophthalmic disorders identified in patients with this genetic abnormality.

RESUMO Paciente de 65 anos, sexo feminino, foi encaminhada para avaliação de cirurgia de catarata. Relatou história de cirurgias mandibulares para correção de deformação facial desenvolvida ao longo da infância e adolescência. O exame oftalmológico completo mostrou estrias angióides bilaterais, drusas em ambas as áreas dos discos ópticos e membrana neovascular sub-retiniana na mácula esquerda. A análise genética revelou mutação no gene SH3BP2 compatível com o diagnóstico de Querubismo. A avaliação clínica e laboratorial descartou outros distúrbios sistêmicos. O Querubismo é uma doença óssea rara caracterizada pelo desenvolvimento de lesões fibro-ósseas indolores na mandíbula e maxila durante a primeira infância. Os achados oftalmológicos nesta doença estão principalmente relacionados ao envolvimento ósseo orbitário. Este artigo descreve pela primeira vez a ocorrência de estrias angióides e drusas de disco óptico no Querubismo. Enfatizamos que essa condição deve ser incluída no diferencial de pacientes com tais achados, principalmente quando ambos existirem em associação.

Non-familial Cherubism – Report of a case / Querubim não familiar - Relatório de caso

The Cherubism is a rare disease that affects the middle and lower third of the facein individuals at the time of childhood. It is a rarehereditary benign bone disease with an autosomal dominant inheritance. The familial distribution may affect different generations and isolated nonfamilial cases have also been reported in literature. Lesions appear as cystic multilocular radiolucencies, histologically, they resemble central giant cell granluloma and hyperpara thyroidism brown tumorwith numerous randomly distributed multinuclea tedgiant cells and vascular spaces within a fibrous connective tissue stroma. Objective: The aim of this study is to report the importance of the diagnosis of this pathology and the variety of treatments availablein the literature, thus guiding to an individualized treatment. Case Report: Caucasian 8 years-oldfemale, in good general condition, was referred to Service of Oral and Maxillofacial Surgery of Erasto Gaertner Hospital (EGH), Curitiba – PR, Brazil, complaining of bilateral swelling of the maxilla and mandible since 4 years-old. Apparently, the girl isthe first one who developed the genetic pathologyin at least 4 generations of her family. After biopsy, cherubism diagnosis was confirmed and the treatment of choice was periodic monitoring. Discussion: Cherubism studies with long-term follow-up with clinical and radiographic documentation indicate that the spontaneous resolution of bone lesions israre. Treatment of cherubism is controversial and various modalities have been reported as the use of calcitonin, osseous plasty surgery, curettage, orthognathic surgery, liposuction and palliative treatments. Conclusion: cherubism is a rarecondition that affects individuals in childhood that lead to some facial alterations, those patients need an special care and an well trained team to treat these disease more carefully and wisely noting that exist a series of option of new treatments in this cases...

Introdução: O Querubismo é uma doença rara que afeta o terço médio e inferior da face em indivíduos no momento da infância. É uma doença óssea hereditária benigna com herança autossômica dominante sendo que a distribuição familial pode afetar diferentes gerações, todavia casos não-familiares isolados também foram relatados na literatura. As lesões apresentam se radiograficamente como cistos multiloculados radiolúcidos e histologicamente se assemelham ao granuloma central de células gigantes e ao tumor marrom do hiper paratireoidismo com numerosas células gigantes multinucleadas distribuídos aleatoriamente e espaços vasculares dentro de um estroma de tecido conjuntivo fibroso. Objetivos: O objetivo deste estudo é relatar a importância do diagnóstico desta patologia e da variedade de tratamentos disponíveis na literatura, orientando dessa maneira a um tratamento individualizado. Relato de Caso: Mulher, caucasiana, 8 anos de idade, em bom estado geral. Foi encaminhada ao Serviço de Cirurgia Bucomaxilofacial do Hospital Erasto Gaertner (EGH), Curitiba - PR, Brasil, com queixa de inchaço bilateral da maxila e da mandíbula desde os 4 anos de idade. Em avaliação notou-se que menina é a primeira pessoa que desenvolveu a patologia empelo menos quatro gerações de sua família. Após biópsia o diagnóstico de cherubism foi confirmado e o tratamento de escolha foi a monitorização periódica. Discussão: estudos de cherubism a longo prazo de follow-up com documentação clínica e radiográficas indicam que a resolução espontânea das lesões ósseas são raras. O tratamento do cherubism é controverso e diversas modalidades têm sido relatados como o uso de calcitonina, a cirurgia de plastia óssea, curetagem cirurgia ortognática, lipoaspiração e tratamentos paliativos...

Clinical and imagiological findings of central giant cell lesion and cherubism

Cone beam computed tomography (CBCT) is the best examination for bone lesions of the maxilla, allowing the dentist to evaluate precisely the behavior and components of the lesion and their relationship to the surrounding structures. Central giant cell lesion and cherubism are histologically very similar lesions. Therefore clinical and radiological examinations are fundamentally important for the diagnosis. The aim of this paper is to report two cases diagnosed as central giant cell lesions and cherubism using CBCT. This imaging modality was very important for the diagnosis of the lesions presented in the current study. It also allowed observing precisely the limits of the lesions, the components, the behavior and the exact relationship to adjacent structures.

A tomografia computadorizada de feixe cônico (TCFC) é o melhor exame para lesões ósseas da maxila, permitindo que o dentista possa avaliar com mais confiabilidade o comportamento, os componentes da lesão, e sua relação com estruturas adjacentes. A Lesão central de células gigantes e o querubismo são patologias muito semelhantes histologicamente, portanto, exames clínicos e radiológicos são de fundamental importância para o diagnóstico. O objetivo deste trabalho é relatar dois casos diagnosticados usando TCFC, um de lesões centrais de células gigantes e um de querubismo. Esta modalidade de imagem foi muito importante para o diagnóstico das patologias apresentadas neste estudo. Também permitiu observar com mais confiabilidade os limites das lesões, os componentes, o comportamento e a relação exata com as estruturas adjacentes.

Case report on cherubism: non-familial variant / Relato de caso de querubismo: uma variante não familiar

Introduction: Cherubism is a rare, non-neoplastic, self-limiting, fibro-osseous disease, characterized by painless expansion of the maxilla, mandible or both. It usually develops in the first and second year of life. The radiographic appearance presentation is ordinarily bilateral, multilocular appearance in the mandible. To the best of our knowledge, very few cases (less than ten) of non-familial cherubism have been reported in the English literature. Objective: To describe non-familial case of cherubism in a 10-year-old child. Materials and methods: The current case was clinically, radiographically and histopathologically analysed for confirmatory diagnosis. Results: H & E stained section showed vascular and cellular stroma containing numerous multinucleated giant cells. Conclusion: Correlating radiographically and histopathologically the case was finally diagnosed as non-familial variant of cherubism.

Introdução: Querubismo é uma doença rara, não neoplásica, autolimitada, fibro-óssea, caracterizada pela expansão indolor da maxila, mandíbula ou ambas. Ela geralmente se desenvolve no primeiro e no segundo ano de vida. A aparência radiográfica é normalmente bilateral, multilocular e localizada na mandíbula. Para melhor conhecimento, poucos casos (menos de dez) de querubismo não familiar foram relatados na literatura. Objetivo: Descrever um caso de querubismo não familiar em uma criança de 10 anos. Materiais e métodos: Para confirmação do diagnóstico, foram realizadas avaliações clínicas, radiográficas e histológicas deste caso. Resultados: Seção corada de H & E mostrou estroma vascular e celular contendo numerosas células gigantes multinucleadas. Conclusão: Na correlação radiográfica e histológica, ficou confirmado diagnóstico de variante não familiar de querubismo.

Anesthetic experience of a pediatric patient with facial anomaly due to Cherubism: A case report

We report the perioperative airway management in a 7-year-old boy suffering from Cherubism who was scheduled for endoscopic sinus surgery under general anesthesia. Cherubism is a rare, hereditary disorder of the jaws characterized by expansion of the maxilla and mandible. A difficult airway was encountered during induction of general anesthesia, nasal and oral mask pitting ventilation was hard for first attempts due to facial bony abnormality. At second attempt, we tried only oral mask pitting ventilation and it was successful.

Cherubism: Review of 2 Cases

Cherubism - A case report with long term follow up.

Cherubism is a rare non-neoplastic disease of the bone characterized by bilateral painless enlargement of the jaws giving a cherubic appearance to the patient. It is an autosomal dominant disorder but may occur sporadically. In this paper, we have tried to explain about the clinical, radiological and histopathologic features of cherubism by presenting a case study. A case study of a 7 year old male patient, who first presented with mandibular bilateral swellings to our department in 1998, has been presented. In-depth clinical, radiological and histopathologic examination was done. An extensive long-term follow-up till 11 years was maintained. When presented for the first time, radiological investigation showed characteristic multilocular lytic lesions of the mandible bilaterally. Histopathological examination of the biopsy specimen showed proliferating fibrous connective tissue interspersed by multinucleated giant cells. It was diagnosed as a case nonfamilial cherubism. Follow-up after 5 years showed involvement of the maxilla as well, which was then corrected by surgical methods. Upon follow up 11 years after the first presentation, it was seen that the lesion was regressing by itself and there was improvement in facial contour. The natural course of Cherubism through its progression, stabilization and involution of the disease after puberty, has been highlighted in this case. More, in-depth studies to understand the nature and the pathogenesis of this condition better are required.

Management of Aggressive Form of Cherubism.

Cherubism is a rare non-neoplastic hereditary disease related to genetic mutations characterized by symmetrically swollen cheeks, particularly over the angles of the mandible, and an upward turning of the eyes. The affected mandible and maxilla begin to swell in early childhood, and are gradually increased until the age of puberty. Apparently, surgical intervention is unnecessary unless significant functional, esthetic, or emotional disturbances develop. The purpose of the present paper is to report a case of cherubism in which all the classic features of the ailment were seen to a degree exceeding even that of the grade 3 classification.

Querubismo, un caso clínico / Cherubism, a case-report

Cherubism is a benign osteofibrous disorder affecting facial bones. It is produced by an abnormal functioning of osteoblasts and osteoclasts, leading to replacement of normal bone by cellular fibrous tissue and immature bone, producing painless progressive growing of the jaw, with round facial appearance. Case-report: An 11 years-old female patient is presented, with 8 years of progressive facial swelling. The clinical and radiologic diagnosis of cherubism was confirmed by molecular analysis, detecting de novo mutation in SH3BP2 gene.

El Querubismo es una alteración osteofibrosa benigna que los huesos de la cara originada por un funcionamiento anormal de osteoblastos y osteoclastos que ocasiona reemplazo de tejido óseo por matriz fibrosa y hueso inmaduro que como consecuencia desarrolla un crecimiento progresivo no doloroso de la mandíbula, dando un aspecto redondeado a la cara. Caso clínico: Se presenta un caso de Querubismo en una paciente de 11 años de edad, con cuadro de 8 años de evolución de aumento progresivo del volumen facial, el cuadro clínico y radiológico de Querubismo fue confirmado por el análisis molecular que detecto una mutación de novo en el gen SH3BP2.