RESUMEN
BACKGROUND: Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder typified by various combination of numerous Café-au-lait macules, cutaneous and plexiform neurofibromas, freckling of inguinal or axillary region, optic glioma, Lisch nodules and osseous lesions. Cherubism is a rare genetic syndrome described by progressive swelling of the lower and/or upper jaw due to replacement of bone by fibrous connective tissue. Patients are reported in the literature with NF1 and cherubism-like phenotype due to the NF1 osseous lesions in the jaws. The purpose of this case report is the description of a young male genetically diagnosed with both NF1 and cherubism. METHODS AND RESULTS: A 9 years and six month old patient with clinical findings of NF1 and cherubism in whom both diseases were genetically confirmed, is presented. The patient was evaluated by a pediatrician, a pediatric endocrinologist, an ophthalmologist, and an oral and maxillofacial surgeon. A laboratory and hormonal screening, a histological examination, a chest X-ray, a magnetic resonance imaging (MRI) of the orbit and a digital panoramic radiography were performed. Genetic testing applying Whole Exome Sequencing was conducted. CONCLUSIONS: A novel and an already reported pathogenic variants were detected in NF1 and SH3BP2 genes, respectively. This is the first described patient with coexistence of NF1 and cherubism. The contribution of Next Generation Sequencing (NGS) in gene variant identification as well as the importance of close collaboration between laboratory scientists and clinicians, is highlighted. Both are essential for optimizing the diagnostic approach of patients with a complex phenotype.
Asunto(s)
Querubismo , Neurofibromatosis 1 , Niño , Humanos , Masculino , Manchas Café con Leche/complicaciones , Manchas Café con Leche/genética , Querubismo/complicaciones , Querubismo/genética , Pruebas Genéticas , Neurofibromatosis 1/complicaciones , Neurofibromatosis 1/genética , Neurofibromatosis 1/diagnóstico , FenotipoRESUMEN
BACKGROUND: Cherubism is an autosomal dominant syndrome characterized by excessive bilateral maxillomandibular bony degeneration and fibrous tissue hyperplasia. Conservative management is the preferred treatment as cherubism has a self-limiting course. Functional or emotional disturbances may, however, demand surgical intervention. We report a patient who underwent surgical intervention. METHOD/DESCRIPTION: He had significant enlargement of lower cheeks and bilateral lower lid scleral show. On computed tomography of the face, the patient had significant fibrous tissue involving bilateral maxilla and mandible. The mandibular tumor was excised. Given normal inferior border, bilateral sagittal split osteotomy was performed to infracture and inset the outer cortex. During the procedure, patient required blood transfusion intraoperatively, so the maxillary portion of the procedure was delayed until 6 months later. For the maxilla, bilateral transconjunctival approach was used to resect parts of the orbital floors that were concave, resulting in 1 × 2 cm defects bilaterally which were reconstructed using resorbable plates. Then the anterior maxillary tumor was excised. RESULTS: The patient and his parents were satisfied with his appearance after surgery. The patient was noted to have improvement in contour and decreased scleral show. He has most recently followed up 15 months after the initial surgery. There were no long-term complications. CONCLUSIONS: Severity of cherubism influences the type of surgical intervention. The present case is innovative because this is the first reported case of recontouring orbital floors with resorbable plates and infracturing of the mandible using sagittal split osteotomies for surgical treatment of cherubism.
Asunto(s)
Querubismo , Órbita , Querubismo/complicaciones , Querubismo/diagnóstico por imagen , Querubismo/cirugía , Humanos , Masculino , Mandíbula/cirugía , Maxilar/cirugía , Órbita/anomalías , Órbita/cirugía , Tomografía Computarizada por Rayos XRESUMEN
INTRODUCTION: The aim of this case report was to present the successful orthodontic treatment of an adolescent girl with cherubism. METHODS: The patient began treatment after puberty. Necessary extractions were performed, and she had full-arch treatment of the maxillary and mandibular anterior teeth. A series of archwires was used in a timely manner to create an adequate arch form and close the interdental spaces. Once treatment was completed, retention was ensured with a maxillary spring aligner and mandibular fixed retainer. RESULTS: Maxillary alignment and an adequate arch form were achieved, and mandibular treatment was limited to the anterior segment. The patient finished treatment with an esthetically pleasing smile. CONCLUSIONS: There have been few reports of orthodontic treatment for a patient with cherubism. This case report provides evidence that complete or limited orthodontic treatment can be provided to these patients to improve facial esthetics and bolster their self-esteem.
Asunto(s)
Querubismo/complicaciones , Ortodoncia Correctiva , Adolescente , Querubismo/diagnóstico por imagen , Estética Dental , Femenino , Humanos , Radiografía PanorámicaRESUMEN
Cherubism is a craniofacial disorder characterized by maxillary and mandibular bone destruction. Gain-of-function mutations in the SH3-domain binding protein 2 (SH3BP2) are responsible for the excessive bone resorption caused by fibrous inflammatory lesions. A homozygous knock-in (KI) mouse model for cherubism (Sh3bp2KI/KI ) develops autoinflammation resulting in systemic bone destruction. Although administration of the TNF-α blocker etanercept to neonatal Sh3bp2KI/KI mice prevented the disease onset, this therapy was not effective for adult Sh3bp2KI/KI mice or human cherubism patients who already had lesions. Because genetic ablation of spleen tyrosine kinase (SYK) in myeloid cells rescues Sh3bp2KI/KI mice from inflammation, we examined whether SYK inhibitor administration can improve fully developed cherubism symptoms in adult Sh3bp2KI/KI mice. Entospletinib (GS-9973) was intraperitoneally injected into 10-week-old Sh3bp2KI/KI mice every day for 6 weeks. Treatment with GS-9973 improved facial swelling and histomorphometric analysis of lung and liver tissue showed that GS-9973 administration significantly reduced inflammatory infiltrates associated with decreased levels of serum TNF-α. Micro-computed tomography (µCT) analysis showed that GS-9973 treatment reduced bone erosion in mandibles, calvariae, and ankle and elbow joints of Sh3bp2KI/KI mice compared to Sh3bp2KI/KI mice treated with dimethyl sulfoxide (DMSO). Taken together, the results demonstrate that administration of the SYK inhibitor ameliorates an already established cherubism phenotype in mice, suggesting that pharmacological inhibition of SYK may be a treatment option for cherubism patients with active disease progression. © 2018 American Society for Bone and Mineral Research.
Asunto(s)
Huesos/patología , Querubismo/tratamiento farmacológico , Indazoles/uso terapéutico , Inflamación/tratamiento farmacológico , Inhibidores de Proteínas Quinasas/uso terapéutico , Pirazinas/uso terapéutico , Quinasa Syk/antagonistas & inhibidores , Proteínas Adaptadoras Transductoras de Señales/metabolismo , Animales , Huesos/efectos de los fármacos , Querubismo/complicaciones , Modelos Animales de Enfermedad , Indazoles/administración & dosificación , Indazoles/farmacología , Inflamación/complicaciones , Inflamación/patología , Ratones , Inhibidores de Proteínas Quinasas/farmacología , Pirazinas/administración & dosificación , Pirazinas/farmacología , Quinasa Syk/metabolismoRESUMEN
Cherubism is a rare autosomal dominant condition affecting the jaws and caused by mutations in the gene encoding for the adapter protein SH3BP2 that maps to chromosome 4p16.3. Cherubism is characterized by symmetrically developing bone lesions in the maxilla and mandible. The lesions have been radiographically and histopathologically well-described. Here, we present a family with cherubism with two of its members featuring odontogenic tumorous proliferations in association with persistent central giant cell lesions (CGCL). Specifically, the proband, a 25-year-old male, developed a radiolucent lesion characterized histologically by central odontogenic fibroma-like proliferation in association with a CGCL component, while his mother, at age 57, was diagnosed with primary intraosseous odontogenic carcinoma with areas of benign fibro-osseous lesions. In both patients the lesions occurred in the anterior mandible and presented with clinical enlargement. The son underwent incisional biopsy and did not have additional treatment. His mother underwent extensive mandibulectomy due to widespread tumor. The son has two affected children with classic cherubism while a third child at age 5, had not shown any features of the disease. Mutation analysis of three affected members resulted in the identification of a heterozygous mutation in SH3BP2 (c.1244G>C; p.Arg415Pro). To the best of our knowledge, association of cherubism with odontogenic neoplastic lesions has hitherto not been reported in the literature, thus suggesting a relationship between cherubism with disturbed odontogenesis.
Asunto(s)
Proteínas Adaptadoras Transductoras de Señales/genética , Querubismo/complicaciones , Neoplasias Mandibulares/patología , Tumores Odontogénicos/patología , Adulto , Proliferación Celular , Querubismo/genética , Femenino , Humanos , Masculino , Neoplasias Mandibulares/genética , Persona de Mediana Edad , Mutación , Tumores Odontogénicos/genética , LinajeRESUMEN
BACKGROUND: Prosthodontic treatment of children with genetic disorders is an area that is rarely examined in the current specialist literature. Few prosthodontists will undertake treatment of such patients, who will more often be referred to an orthodontic specialist. After examining the 4 cases of children with genetic disorders described in this paper, it can be concluded that when a prosthodontist includes a few additional procedures in the treatment process, he or she can successfully help such patients. OBJECTIVES: The aim of this paper is to indicate the clinical difficulties faced by prosthodontists who undertake prosthodontic rehabilitation of children with genetic disorders. MATERIAL AND METHODS: The paper is based on data collected during the prosthodontic treatment of 4 children, aged 5-12 years with genetic defects, and analysis of the body of work concerning these defects and their treatment. RESULTS: Presentation of guidelines for the prosthodontic treatment process and creation of dentures for treated children based on extended procedures. CONCLUSIONS: A prosthodontist is a crucial person in a team of specialists treating disorders within the face among children with a genetic predisposition. A basic knowledge of orthodontics and psychology facilitates the treatment. Prosthetic restoration in the treatment group does not always require complicated operations. Individualization of the tools for downloading orthodontic impressions, designing denture elements and an increased number of checkups are the additional procedures. For the clinician, the emotional aspect of the treatment is the main impediment. Maintaining a good relationship with a patient and his or her caregivers requires interpersonal skills.
Asunto(s)
Querubismo/complicaciones , Dentadura Parcial Removible , Displasia Ectodérmica/complicaciones , Insuficiencia de Crecimiento/complicaciones , Cardiopatías Congénitas/complicaciones , Arcada Parcialmente Edéntula/complicaciones , Prostodoncia/instrumentación , Querubismo/diagnóstico , Querubismo/genética , Niño , Preescolar , Diseño de Prótesis Dental , Displasia Ectodérmica/diagnóstico , Displasia Ectodérmica/genética , Facies , Insuficiencia de Crecimiento/diagnóstico , Insuficiencia de Crecimiento/genética , Femenino , Cardiopatías Congénitas/diagnóstico , Cardiopatías Congénitas/genética , Humanos , Arcada Parcialmente Edéntula/diagnóstico por imagen , Arcada Parcialmente Edéntula/etiología , Masculino , Grupo de Atención al Paciente , Prostodoncia/métodos , Radiografía Panorámica , Resultado del TratamientoRESUMEN
Cherubism is an autosomal-dominant benign bone disorder, characterized by fibro-osseous lesions in the mandible and maxilla commonly caused by mutations in the SH3-binding protein 2-gene. The purpose of the authors' study was to analyze craniofacial and dental features of children diagnosed with cherubism, describe their treatment, and assess their dental age compared with norms for Finnish children. Six children were diagnosed, followed up and treated due to dental and skeletal disorders caused by cherubsim. The patients were followed up for an average of 91.5 months with emphasis on the skeletal changes and development of dentition. The treatment consisted of minor orthodontic treatment, dental extractions, and exposures. One patient underwent cosmetic mandibular surgery. All patients had lesions in the lower jaw and 5 of 6 patients had lesions in the maxilla as well. The patients were characterized by varying swelling of the jaws, premature loss of deciduous teeth in the affected area and widely spaced, displaced, un-erupted, or absent permanent teeth. The dental age was delayed at younger age but near to normal or even a little ahead at older age. Even though cherubism affects the jaws, jaw positions, and malocclusion, no common dentofacial proportions associated with the disease could be confirmed by cephalometric analysis. The surgical interventions did not provoke adverse reactions or local growth of the lesions.
Asunto(s)
Anodoncia/etiología , Querubismo/complicaciones , Querubismo/terapia , Cefalometría , Niño , Preescolar , Dentición Permanente , Femenino , Humanos , Masculino , Mandíbula/patología , Maxilar/patología , Ortodoncia Correctiva , Extracción Dental , Pérdida de Diente/etiología , Diente Primario , Diente no Erupcionado/etiologíaRESUMEN
PURPOSE: The aim of the present study was to describe a case of cherubism with late progression, after skeletal maturity had been reached, that coincided with a recent diagnosis of polycystic ovary syndrome (PCOS). PATIENTS AND METHODS: We reviewed the published data and searched for any reported association between cherubism and PCOS. We also reviewed the cases of late reactivation of cherubism. RESULTS: This is, to our knowledge, the first case report of cherubism associated with PCOS. CONCLUSION: Cherubism is a rare condition, which, in its normal course, becomes quiescent after puberty. Only a few cases of late growth have been reported. The understanding of the condition has evolved in recent years, with a better appreciation of the underlying genetics and pathogenesis of the disease. However, much remains unknown about this rare entity. We describe a case of cherubism reactivation that coincided with changes related to PCOS. Both PCOS and cherubism are associated with a low-grade inflammatory state.
Asunto(s)
Querubismo/complicaciones , Síndrome del Ovario Poliquístico/complicaciones , Adulto , Querubismo/diagnóstico por imagen , Niño , Progresión de la Enfermedad , Femenino , Humanos , Radiografía Panorámica , RecurrenciaAsunto(s)
Querubismo/complicaciones , Sacroileítis/complicaciones , Espondiloartropatías/complicaciones , Adolescente , Querubismo/diagnóstico , Querubismo/etnología , Humanos , Judíos , Imagen por Resonancia Magnética , Masculino , Pronóstico , Radiografía Panorámica , Sacroileítis/diagnóstico , Sacroileítis/etnología , Sacroileítis/terapia , Espondiloartropatías/diagnóstico , Espondiloartropatías/etnología , Espondiloartropatías/terapiaRESUMEN
PURPOSE: The relationship between quality of life, psychological distress, and orofacial syndromes in children and adolescents has been reported in several studies. However, little is known about differences in psychological distress and quality of life among adults with different orofacial conditions. Therefore, the aims of this study were to examine and compare these factors among three groups of adults affected by Treacher Collins syndrome (TCS), cherubism, and oligodontia/ectodermal dysplasia (ED). METHODS: We included 11 individuals with TCS (mean age 46.9, SD 12.9 years), 15 with cherubism (mean age 50.3, SD 16.8 years), and 49 with oligodontia/ED (mean age 30.7, SD 15.6 years). The respondents completed questionnaires related to psychological distress and quality of life. RESULTS: The oligodontia/ED group had a significantly higher level of anxiety and worse mental health-related quality of life than both the TCS and cherubism groups. Adults with TCS reported the highest level of depression, and the lowest levels of overall quality of life, well-being, and physical health-related quality of life. The cherubism group displayed the best overall quality of life, well-being, and mental health. CONCLUSIONS: Psychological distress and quality of life differed in various orofacial conditions. This study provided insight into these aspects that may contribute to improved care.
Asunto(s)
Querubismo/complicaciones , Displasia Ectodérmica/complicaciones , Disostosis Mandibulofacial/complicaciones , Calidad de Vida/psicología , Estrés Psicológico/etiología , Adulto , Ansiedad/etiología , Querubismo/psicología , Depresión/etiología , Displasia Ectodérmica/psicología , Femenino , Humanos , Masculino , Disostosis Mandibulofacial/psicología , Salud Mental , Persona de Mediana Edad , Satisfacción Personal , Estrés Psicológico/psicología , Encuestas y Cuestionarios , Adulto JovenRESUMEN
A 4-year old boy presented severe obstructive sleep apnoea due to complete nasal obstruction secondary to cherubism. Because of anticipatory anxiety due to numerous surgical interventions, medical hypnosis was proposed to facilitate non-invasive continuous positive pressure ventilation (CPAP) acceptance. CPAP by means of an oral interface was completely accepted after three hypnosis sessions and resulted in the correction of his obstructive sleep apnea (OSA) syndrome. This report highlights the benefit of medical hypnosis in facilitating CPAP acceptance as well as the efficacy of mouthpiece ventilation in a severe form of cherubism with complete nasal obstruction.
Asunto(s)
Obstrucción de las Vías Aéreas/terapia , Querubismo/complicaciones , Presión de las Vías Aéreas Positiva Contínua/instrumentación , Presión de las Vías Aéreas Positiva Contínua/métodos , Hipnosis/métodos , Apnea Obstructiva del Sueño/terapia , Obstrucción de las Vías Aéreas/etiología , Preescolar , Humanos , Masculino , Apnea Obstructiva del Sueño/etiología , Resultado del TratamientoRESUMEN
UNLABELLED: Cherubism is a rare, autosomal dominant, mostly self-limiting disease of the jaw. It is characterized by bilateral fibrous tissue hyperplasia, giant cell proliferation, and bony degeneration in the lower facial skeleton, which can result in a massive and severely deforming prominence of the maxillomandibular structure. This case study examines the multidisciplinary management of a severe case of cherubism complicated by neurofibromatosis type 1, 2 codominant nonsegregating conditions that were clinically and genetically diagnosed, an extremely rare combination. Adequate mandibular reduction, reconstruction, and dental implantation afforded good restoration of oral function as well as a marked aesthetic improvement. METHODS: A 14-year-old Fijian girl was referred to our unit for management of severe overgrowth of her mandible that compromised her speech and deglutition. In addition, she displayed clinical features consistent with neurofibromatosis type 1. Radiologic, histologic, and genetic analyses confirmed the diagnosis of both conditions. Our craniofacial multidisciplinary team undertook mandibular reconstruction followed by placement of osseointegrated dental implants. RESULTS: Mandibular reduction, reconstruction, and dental implantation resulted in a significantly improved functional and aesthetic outcome with no further regrowth at 3-year follow-up when she returned to the United Kingdom for osseointegrated dental implant insertion. CONCLUSIONS: The successful outcome of this surgically challenging, grossly disfiguring, and rare condition was largely a result of the combined input from our multidisciplinary team, adequate preoperative planning, and the use of a novel surgical technique in debulking and reconstructing her mandible.
Asunto(s)
Querubismo/cirugía , Mandíbula/anomalías , Mandíbula/cirugía , Neurofibromatosis 1/cirugía , Procedimientos de Cirugía Plástica/métodos , Adolescente , Querubismo/complicaciones , Estética , Femenino , Humanos , Neurofibromatosis 1/complicacionesRESUMEN
Cherubism is a rare non-neoplastic, fibro-osseous hereditary disorder characterized by bilateral expansion of the maxilla and mandible producing a characteristic facial appearance. It can affect the facial and dental growth of the individual and often results in gross aesthetic and functional deficiencies. The teeth may also be displaced or submerged and these problems can often compromise successful restorative rehabilitation. This paper describes the restorative management of an adult patient with Cherubism involving a fixed implant retained mandibular restoration. The care utilized 3D planning software and implant insertion guides to facilitate an early loading protocol and the use of optimum bone quality/volume areas.
Asunto(s)
Querubismo/complicaciones , Implantes Dentales , Prótesis Dental de Soporte Implantado , Enfermedades Mandibulares/complicaciones , Planificación de Atención al Paciente , Adulto , Diseño Asistido por Computadora , Implantación Dental Endoósea/instrumentación , Implantación Dental Endoósea/métodos , Retención de Dentadura , Dentadura Completa Inmediata , Dentadura Completa Inferior , Prótesis de Recubrimiento , Femenino , Estudios de Seguimiento , Humanos , Imagenología Tridimensional/métodos , Carga Inmediata del Implante Dental , Programas InformáticosRESUMEN
Noonan-like/multiple giant cell lesion syndrome is a rare condition with phenotypic overlap with Noonan syndrome (NS) and cherubism. PTPN11 gene mutations were described in several individuals with this phenotype, and it is recently considered as a variant phenotype of NS. Gain-of-function mutations in the SOS1 gene were recently described as the second major cause of NS. Here, we report for the first time the involvement of SOS1 gene in a family with the Noonan-like/multiple giant cell lesion phenotype.
Asunto(s)
Células Gigantes/patología , Proteína SOS1/genética , Proteínas Adaptadoras Transductoras de Señales/genética , Sustitución de Aminoácidos , Querubismo/complicaciones , Querubismo/genética , Querubismo/patología , Niño , Preescolar , ADN/análisis , ADN/genética , Análisis Mutacional de ADN , Células Gigantes/metabolismo , Humanos , Masculino , Mandíbula/patología , Síndrome de Noonan/complicaciones , Síndrome de Noonan/genética , Síndrome de Noonan/patología , Mutación Puntual , Proteína Tirosina Fosfatasa no Receptora Tipo 11/genética , Estenosis de la Válvula Pulmonar/etiologíaRESUMEN
The Central Institute for Stomatology and Maxillo-facial Surgery in Moscow is one the main centers for the treatment of pediatric head and neck tumors in the territory of the former Soviet Union. A series of 33 patients presenting with cherubism (24 children and 9 of their parents) is presented. The authors discuss the atypical clinical presentations, the relevant associated anomalies and the different treatment strategies. They report the first case of cherubism associated with gingival hypertrophy without neurological signs.
Asunto(s)
Querubismo/patología , Fibromatosis Gingival/complicaciones , Hipertrofia Gingival/complicaciones , Mandíbula/anomalías , Anomalías Dentarias/complicaciones , Querubismo/complicaciones , Querubismo/genética , Querubismo/terapia , Niño , Preescolar , Femenino , Fibromatosis Gingival/patología , Hipertrofia Gingival/patología , Humanos , Masculino , Mandíbula/patología , Maxilar/anomalías , Maxilar/patología , Padres , Linaje , Estudios Retrospectivos , Federación de Rusia , Índice de Severidad de la Enfermedad , Articulación Temporomandibular/anomalías , Articulación Temporomandibular/patología , Anomalías Dentarias/patologíaRESUMEN
For a predicted difficult airway, oral intubation techniques are well established in pediatric anesthesia, but nasotracheal intubation remains a problem. There are many reports concerning this, but the risk of bleeding, added to the lack of cooperation make this procedure difficult and hazardous. We describe a modification of the nasal intubation technique in two stages. First an oral intubation and then exchanging the oral for a nasal tube, in the case of a 13-year-old boy affected by an advanced stage of cherubism. Oral intubation using a laryngeal mask technique has already been reported, but problems appear during the exchange procedure and even more when direct laryngoscopy is impossible. Fiberscopic control of the exchange, and the introduction of a Cook Exchange Catheter into the trachea through the oral tube before withdrawal, permits oxygenation of the patient and acts as a guide for oral tube reintroduction if required.
Asunto(s)
Obstrucción de las Vías Aéreas , Querubismo/cirugía , Tecnología de Fibra Óptica/métodos , Intubación/métodos , Boca , Cavidad Nasal , Adyuvantes Anestésicos/administración & dosificación , Adolescente , Anestésicos Intravenosos/administración & dosificación , Atropina/administración & dosificación , Querubismo/complicaciones , Humanos , Anomalías Maxilomandibulares/etiología , Anomalías Maxilomandibulares/cirugía , Máscaras Laríngeas , Imagen por Resonancia Magnética , Masculino , Boca/diagnóstico por imagen , Boca/patología , Procedimientos Quirúrgicos Ortognáticos , Piperidinas/administración & dosificación , Propofol/administración & dosificación , Remifentanilo , Tomografía Computarizada por Rayos XRESUMEN
BACKGROUND: Central odontogenic fibroma (COF) is characterized by poor to cellular fibroblastic proliferation and a variable odontogenic epithelial (OE) component. Central giant cell lesions (CGCL) are osteolytic fibroblastic proliferations characterized by osteoclast-like multinucleated giant cells (MGC). Rare examples of hybrid COF/CGCL have been described. Two pathogenetic theories prevail based on clinicopathologic characteristics. One regards the CGCL component as reactive to the COF, while the other regards the CGCL as inductive of a COF-like proliferation. The possibility of colliding tumors seems unlikely. METHODS AND MATERIALS: Seven patients with hCOF/CGCL, among them one with cherubism, were studied. Immunohistochemistry for cytokeratin 19 was applied to better appreciate the epithelial component. RESULTS: Six patients were males and one female and their age ranged from 15 to 73 years old. All lesions occurred in the premolars and molars of the mandible and presented as radiolucencies with primarily well-delineated borders. All patients underwent surgical excision and recurrences have not been reported to this date in 6 out of 7 patients (mean follow-up 60.6+/-36.25 months). The COF component predominated in 3 cases and the CGCL component in 3. Zones of collagen fibers featuring a whorling pattern and containing multiple nests of OE were present. In four cases there were hyalinized deposits in OE, while some foci of MGC contained few OE. CONCLUSIONS: Gender predilection in our series is in contrast with previously published reports. However, when all previously reported cases are reviewed there is still female predilection. The predominant site, as previously reported, is the tooth-bearing areas of the posterior mandible. This is the first report of hCOF/CGCL in cherubism. The pathogenesis of hCOF/CGCG remains obscure and molecular interactions would be of interest to be investigated.