ABSTRACT
BACKGROUND: Cherubism is known as a very rare autosomal dominant familial disorder of childhood caused by a mutation in the SH3BP2 gene on 4p16.3. It has not yet been observed at birth and is usually diagnosed in children aged 2-7. Here, we present a non-hereditary case of cherubism at a very early age. CASE PRESENTATION: A 6-month-old girl presented with bilateral progressive jaw enlargement. On physical examination, bilateral asymmetrical jaw enlargement, predominantly on the left side, and some enlarged, non-tender, mobile submandibular lymph nodes were detected. No other abnormality was observed. Further investigations with radiology suggested cherubism and Burkitt's lymphoma as differential diagnoses. Later on, histopathologic evaluations were suggestive of cherubism. No surgical interventions were indicated, and the child is on regular follow-ups. CONCLUSION: Non-hereditary Cherubism, despite scarcity, can present in children below two years of age, even as early as the beginning of primary dentition. Accurate and swift diagnosis is essential to avert physical and psychological complications. Our case report shows the importance of keeping cherubism in mind as a differential diagnosis of bone disease, even in children under a year old, and the value of interdisciplinary collaboration in dealing with rare genetic disorders.
Subject(s)
Cherubism , Humans , Cherubism/genetics , Cherubism/diagnosis , Female , Infant , Diagnosis, DifferentialABSTRACT
Central giant cell granuloma of the jaw (CGCJ) can be locally aggressive and result in facial and dental deformity. A child with CGCJ was treated surgically and with denosumab with a response but life-threatening toxicity. Imatinib, a tyrosine kinase inhibitor, was prescribed based on clinical similarities between CGCJ and cherubism, for which Imatinib has been effective. Within 2 months, a computed tomographic scan showed significant ossification, which increased over the following 8 months. This case suggests that tyrosine kinase inhibitors may be an effective option, and one with limited toxicity, for CGCJ.
Subject(s)
Cherubism , Granuloma, Giant Cell , Child , Humans , Granuloma, Giant Cell/drug therapy , Granuloma, Giant Cell/diagnosis , Imatinib Mesylate/therapeutic use , Cherubism/diagnosis , Diagnosis, Differential , Tomography, X-Ray ComputedABSTRACT
We report on a girl, born to first cousin Lebanese parents, with intellectual disability, seizures, repeated gingivorrhagia, enlarged lower and upper jaws, overgrowth of the gums, high arched and narrow palate, crowded teeth, hirsutism of the back, large abdomen and a small umbilical hernia. Cysts of the mandible, fibrous dysplasia of bones, and enlarged adenoids causing around 60% narrowing of the nasopharyngeal airways were noted at radiographic examination. Her brother presented with the same features in addition to a short stature, an ostium secundum, and more pronounced intellectual disability. He died at the age of 8 years from a severe pulmonary infection and repeated bleeding episodes. A clinical diagnosis of Ramon syndrome was made. Whole exome sequencing studies performed on the family revealed the presence of a novel homozygous missense mutation in ELMO2 gene, p.I606S in the affected individuals. Loss of function mutations in ELMO2 have been recently described in another clinically distinct condition: primary intraosseous vascular malformation or intraosseous hemangioma, called VMOS. Review of the literature and differential diagnoses are discussed.
Subject(s)
Adaptor Proteins, Signal Transducing/genetics , Cherubism/diagnosis , Cherubism/genetics , Cytoskeletal Proteins/genetics , Epilepsy/diagnosis , Epilepsy/genetics , Fibromatosis, Gingival/diagnosis , Fibromatosis, Gingival/genetics , Growth Disorders/diagnosis , Growth Disorders/genetics , Homozygote , Hypertrichosis/diagnosis , Hypertrichosis/genetics , Intellectual Disability/diagnosis , Intellectual Disability/genetics , Mutation , Child, Preschool , Consanguinity , Echocardiography , Female , Genetic Association Studies , Genetic Testing , Genomics/methods , Humans , Phenotype , RadiographyABSTRACT
Various forms of bony deformations and dysplasias are often present in the facial skeleton. Bone defects can be either localized or general. Quite often they are not only present in the skull but also can be found in other parts of the skeleton. In many cases the presence and levels of specific bone markers should be measured in order to fully describe their activity and presence in the skeleton. Fibrous dysplasia (FD) is the most common one in the facial skeleton; however, other bone deformations regarding bone growth and activity can also be present. Every clinician should be aware of all common, rare and uncommon bony diseases and conditions such as cherubism, Paget's disease, osteogenesis imperfecta and others related to genetic conditions. We present standard (calcium, parathyroid hormone, calcitonin, alkaline phosphatase, vitamin D) and specialized bone markers (pyridinium, deoxypyridinium, hydroxyproline, RANKL/RANK/OPG pathway, growth hormone, insulin-like growth hormone-1) that can be used to evaluate, measure or describe the processes occurring in craniofacial bones.
Subject(s)
Biomarkers , Bone and Bones/metabolism , Clinical Chemistry Tests , Craniofacial Abnormalities/diagnosis , Bone and Bones/abnormalities , Calcium/metabolism , Cherubism/diagnosis , Humans , Osteitis Deformans/diagnosis , Osteogenesis Imperfecta/diagnosisABSTRACT
PURPOSE: To report 3 cases of cherubism, one of whom underwent surgery for orbital manifestations, and to provide a literature review. CASE REPORTS: Our patients were normal at birth and developed painless enlarging of the cheeks and jaws when they were 4-5 years old. Ophthalmologic examinations showed mild proptosis, superior globe displacement and inferior scleral show in all cases. Cases 2 and 3 had lower lid skin discoloration. Computed tomography (CT) scans demonstrated bilateral multicystic lesions in the maxilla and mandible with cortical thinning in all cases. In Case 3, left eye hyperglobus and anisometropic amblyopia was seen. In this case, the CT scan showed a round, well-defined and homogeneous mass, involving the anterior and superior walls of the maxillary sinus on the left side, extending into inferior orbit. Debulking of the mass was performed at the surgery. The pathologic findings were compatible with the diagnosis of giant cell reparative granuloma. He returned 1 year after surgery with recurrence of the mass. DISCUSSION: A few cases were reported in the literature with histopathologically proven orbital cherubism. To our knowledge, lower lid skin discoloration in Cases 2 and 3 and anisometropic amblyopia in case 3 were not described elsewhere in cherubism cases. We recommend that all cases with cherubism must be examined by an ophthalmologist to diagnose and treat possible orbital manifestations.
Subject(s)
Cherubism/diagnosis , Orbital Diseases/diagnosis , Adult , Diagnosis, Differential , Female , Humans , Male , Tomography, X-Ray Computed , Visual AcuityABSTRACT
The present study is a case report of a 3-year-old girl who was referred to our clinic with the clinical features of cherubism. A locally aggressive tumor was diffusely infiltrating the maxilla and mandible. At 4 years after resection, our patient has not demonstrated any signs of recurrence, which might point to a role for adjunctive chemotherapy, in this case imatinib (Gleevec), for odontogenic myxoma.
Subject(s)
Cherubism/diagnosis , Myxoma/diagnosis , Odontogenic Tumors/diagnosis , Child, Preschool , Diagnosis, Differential , Female , HumansABSTRACT
A 20-year-old edentulous woman, who was previously treated with the shave of the inferior border of the mandible and malar prominent region for aesthetic facial contouring, was selected for full mouth rehabilitation of the maxillomandibular region. The patient was treated with bilateral open sinus lifting through a lateral approach in the posterior of the maxilla and an onlay bone graft with lateral ramus as a donor site in the mandible anterior. Eight implants in the maxilla and 7 in the mandible were inserted, and implant-supported prostheses were fabricated. The 18-month follow-up showed good bone condition that suggests graft interventions and implant treatment as a good treatment modality for patients with cherubism.
Subject(s)
Alveolar Ridge Augmentation/methods , Bone Transplantation/methods , Cherubism/surgery , Dental Implantation, Endosseous/methods , Mouth, Edentulous/surgery , Sinus Floor Augmentation/methods , Cherubism/diagnosis , Female , Follow-Up Studies , Humans , Imaging, Three-Dimensional , Iran , Mouth Rehabilitation/methods , Plastic Surgery Procedures/methods , Tomography, X-Ray Computed , Young AdultABSTRACT
OBJECTIVES: The present study was aimed at advancing the understanding of the pathogenesis of cherubism by presenting a case study based on history, physical examination, typical radiological features, molecular and histopathological laboratory tests and a review of the literature. STUDY DESIGN: This study began with a 7-year-old boy who was referred due to mandibular overgrowth. A panoramic radiograph revealed multilocular radiolucent lesions of the upper/lower jaws suggestive of cherubism. Overall, a total of four family members were tested for SH3BP2 mutations, namely two siblings and their parents. Both siblings had been clinically diagnosed with cherubism; however, the parents were clinically normal. Peripheral blood was collected from all participants and genomic DNA sequencing was carried out. RESULTS: A missense mutation was found in the two affected siblings and their asymptomatic mother. The mutation was a 1244 G>A transversion which resulted in an amino acid substitution from arginine to glutamine (p.Arg415Gln) in exon 9. CONCLUSIONS: The present study emphasized the importance of further clinical and molecular investigation even when only a single case of cherubism is identified within a family. Genotype-phenotype association studies in individuals with cherubism are necessary to provide important insights into the molecular mechanisms associated with this disease.
Subject(s)
Adaptor Proteins, Signal Transducing/genetics , Cherubism/genetics , Mutation , Cherubism/diagnosis , Child , Child, Preschool , Female , Humans , Male , Pedigree , Phenotype , TurkeyABSTRACT
Giant cell tumors of the jaw (GCTJ) are common in the long bones but rare in the craniofacial region, with only 1% of cases occurring in the latter; they account for approximately 3% to 5% of all primary bone tumors and 15% to 20% of all benign bone tumors. The biologic behavior of central giant cell lesions of the jaws ranges from quiescent to aggressive with destructive expansion, and the clinical behavior of GCTJ of the jaws is variable and difficult to predict. A number of tumors that occur in the jaws contain giant cells but are not true benign giant cell tumors. These include aneurysmal bone cyst, cherubism, simple bone cyst, osteoid osteoma, giant cell granuloma reparative, and tumor of hyperparathyroidism. This article reports a patient study of giant cell extended lesion in the left mandible from dental canine element to mandibular angle. The patient underwent excision of neoplasm and reconstruction of the mandible with an autologous bone graft of the iliac crest, but dentition was preserved over the resected area. No complications were detected, and 8 months postoperative control revealed excellent aesthetic and functional recuperation. This case is presented because of the following: (1) GCTJ is an infrequent tumor; (2) uncommon clinical presentation, severe deformity; (3) excessive size and jaw deformity; (4) fast growing; and (5) surgical treatment with preservation of the dentition in affected area.
Subject(s)
Giant Cell Tumor of Bone/surgery , Mandibular Neoplasms/surgery , Autografts/transplantation , Bone Cysts, Aneurysmal/diagnosis , Bone Transplantation/methods , Cherubism/diagnosis , Dental Arch/surgery , Diagnosis, Differential , Female , Follow-Up Studies , Granuloma, Giant Cell/diagnosis , Humans , Jaw Cysts/diagnosis , Mandibular Diseases/diagnosis , Mandibular Reconstruction/methods , Osteoma, Osteoid/diagnosis , Plastic Surgery Procedures/methods , Young AdultABSTRACT
AIM: Cherubism is characterised by mesenchymal alterations during the development of the jaws secondary to perivascular fibrosis. According to the ALARA (As Low As Reasonably Achievable) principle, it is important to avoid conditions where the amount of radiation used is more than that needed for the procedure, because there is no benefit from unnecessary radiation. However, the use of MRI has been poorly studied in cherubism. MATERIALS AND METHODS: The patient underwent head and neck MRI and 3D CT for imaging assessment. RESULTS: MRI is necessary to evaluate the extension of dysplastic tissue and the cystic part of the lesions. Bone window CT only allows evaluation of strong densitometric alterations of cherubism lesions. Moreover, on radiographic film it is not always possible to distinguish fibrous tissue from mucous pseudocystic tissue. By contrast, these differences are readily evident on MRI. CONCLUSION: MRI, in addition to other traditional radiographs and CT, could be useful in helping the clinician in the diagnosis and treatment of cherubism.
Subject(s)
Cherubism/diagnosis , Magnetic Resonance Imaging/methods , Patient Care Planning , Tomography, X-Ray Computed/methods , Absorptiometry, Photon/methods , Bone Density/physiology , Bone Diseases, Developmental/diagnosis , Cherubism/therapy , Child , Diagnosis, Differential , Follow-Up Studies , Humans , Imaging, Three-Dimensional/methods , Male , Mandibular Diseases/diagnosis , Mucocele/diagnosis , Radiography, Panoramic/methodsABSTRACT
Cherubism is a rare and benign bone disease affecting the bones of the face, mainly the mandible, sometimes the maxilla and exceptionally the whole skeleton. The physiopathology is briefly mentioned, especially the genetic aspect of the disease. Subsequently, we present the case of a patient suffering from cherubism, a case we have been following from the age of four and a half to the age of 22. Each step of the surgical treatment is illustrated through a wide iconography. The discussion analyses the intellectual process that leads to diagnosis. The clinical examination is fundamental, as well as the radiological check-up but the latter may not be feasible due to the young age of the patient. The definite diagnosis relies on the histological examination of the bone concerned. It will show an association of dense, abundant and highly vascularised conjunctive tissue together with giant plurinuclear cells, without any mitosis nor any cellular atypia. The other bone diseases affecting the bones of the face will have to be sought, of course, and eliminated through the clinical and radiological examinations and, above all, by the histological examination which is the basis of the definite diagnosis. The treatment of cherubism is still a controversial issue: some authors are in favour of therapeutic abstention while others support the recourse to surgery to deal with the functional and aesthetic dimensions of the disease. In conclusion, the authors insist that the diagnosis of cherubism is apparently easy. Cherubism must be envisaged in the case of a chubby-cheeked child and a sample of pathological bone should be taken in order to ascertain the diagnosis.
Subject(s)
Cherubism/diagnosis , Cherubism/surgery , Mandible/pathology , Mandible/surgery , Maxilla/pathology , Maxilla/surgery , Adult , Cherubism/genetics , Female , Follow-Up Studies , Giant Cells/pathology , Humans , Plastic Surgery Procedures , Tomography, X-Ray ComputedABSTRACT
Sporadic giant cell granulomas (GCGs) of the jaws and cherubism-associated giant cell lesions share histopathological features and microscopic diagnosis alone can be challenging. Additionally, GCG can morphologically closely resemble other giant cell-rich lesions, including non-ossifying fibroma (NOF), aneurysmal bone cyst (ABC), giant cell tumour of bone (GCTB), and chondroblastoma. The epigenetic basis of these giant cell-rich tumours is unclear and DNA methylation profiling has been shown to be clinically useful for the diagnosis of other tumour types. Therefore, we aimed to assess the DNA methylation profile of central and peripheral sporadic GCG and cherubism to test whether DNA methylation patterns can help to distinguish them. Additionally, we compared the DNA methylation profile of these lesions with those of other giant cell-rich mimics to investigate if the microscopic similarities extend to the epigenetic level. DNA methylation analysis was performed for central (n = 10) and peripheral (n = 10) GCG, cherubism (n = 6), NOF (n = 10), ABC (n = 16), GCTB (n = 9), and chondroblastoma (n = 10) using the Infinium Human Methylation EPIC Chip. Central and peripheral sporadic GCG and cherubism share a related DNA methylation pattern, with those of peripheral GCG and cherubism appearing slightly distinct, while central GCG shows overlap with both of the former. NOF, ABC, GCTB, and chondroblastoma, on the other hand, have distinct methylation patterns. The global and enhancer-associated CpG DNA methylation values showed a similar distribution pattern among central and peripheral GCG and cherubism, with cherubism showing the lowest and peripheral GCG having the highest median values. By contrast, promoter regions showed a different methylation distribution pattern, with cherubism showing the highest median values. In conclusion, DNA methylation profiling is currently not capable of clearly distinguishing sporadic and cherubism-associated giant cell lesions. Conversely, it could discriminate sporadic GCG of the jaws from their giant cell-rich mimics (NOF, ABC, GCTB, and chondroblastoma).
Subject(s)
Bone Neoplasms , Cherubism , Chondroblastoma , Giant Cell Tumor of Bone , Granuloma, Giant Cell , Humans , Cherubism/diagnosis , Cherubism/genetics , Cherubism/pathology , Granuloma, Giant Cell/diagnosis , Granuloma, Giant Cell/genetics , Granuloma, Giant Cell/pathology , Chondroblastoma/diagnosis , Chondroblastoma/genetics , Chondroblastoma/pathology , DNA Methylation , Giant Cells/pathology , Giant Cell Tumor of Bone/diagnosis , Giant Cell Tumor of Bone/genetics , Giant Cell Tumor of Bone/pathology , Bone Neoplasms/diagnosis , Bone Neoplasms/genetics , Bone Neoplasms/pathology , Jaw/pathologyABSTRACT
Cherubism is a benign bone dysplasia of childhood, exclusively involving maxillary bones and spontaneous resolving after puberty in different grades. Approximately, 280 cases have been reviewed in the literature. It is an autosomal dominant disorder in which the normal bone is replaced by cellular fibrous and immature bone, resulting in painless symmetrical enlargement of the jaws. Diagnosis is based in clinical and radiological findings, confirmed by histology. Treatment is a controversial issue, and it is recommended surgical management as conservative as possible during the rapid growth phases. An aggressive case of cherubism is reported, diagnosed and followed since early childhood until puberty, with progressive involvement of facial bones developing in a disruption of facial contours and occlusion. The patient is treated by several surgical interventions oriented to minimize the aesthetic impact of the disease being as conservative as possible. The highlights of this case are the great proportion of the lesions, the functional and emotional disturbances brought out by these lesions and the difficulty to choose the most appropriate age and form of treatment.
Subject(s)
Cherubism/diagnosis , Cherubism/surgery , Child, Preschool , Female , HumansABSTRACT
Cherubism is a rare pediatric disease affecting the jaw. It appears among children between 2 and 5 years old. Maximum growth is observed at 7-8 years old, then lesions remain unchanged or increase slowly until puberty. Only 2 cases of later growth have been reported. We describe a case of cherubism reactivation in a 46-year-old woman. Appearance of a new lesion occurs in a context of local inflammation due to repeated friction of the dental prosthesis on the mandible. No article in the literature describes a similar case. This case shows the determining role of inflammation (local or general) in the pathophysiology of cherubism.
Subject(s)
Cherubism , Adult , Cherubism/diagnosis , Cherubism/pathology , Child , Child, Preschool , Female , Head , Humans , Inflammation/diagnosis , Inflammation/pathology , Mandible/pathology , Middle AgedABSTRACT
Összefoglaló. A cherubismus ritka, autoszomális dominánsan öröklodo megbetegedés. A fibroossealis elváltozások csoportjába tartozik. Jellemzoje az állcsontok szimmetrikus duzzanata, a típusos radiológiai elváltozások és az SH3BP2-gén mutációja. Szövettanilag nem különül el az óriássejtes granulomától. A csontelváltozások és a fibroticus szövet felszaporodása pubertás elott kezdodik, ezután stagnálás vagy visszafejlodés következik be. A magyar orvosi irodalomban a szerzok elsoként tárgyalják három testvér kórtörténete alapján a cherubismust. A diagnózist a hasonló klinikai tünetek, a típusos kórlefolyás, a szinte azonos radiológiai kép, a szövettan és a genetikai elváltozások biztosítják. A testvérek és az anya csíravonalában kimutatott azonos mutáció akkor is megfelel egy dominánsan öröklodo szindrómának (például cherubismusnak), ha a betegség az anyában klinikailag nem manifesztálódott, de genetikailag igen. A szerzok összefoglalják a kórkép kezelési lehetoségeit: a sebészi (excochleatio, ,,decountouring", esetleg reszekció) és a gyógyszeres (biszfoszfonát, kalcitonin, szteroid stb.) terápiát. Egyezik a véleményük azokéval, akik azon az állásponton vannak, hogy a beavatkozásokkal várni kell, és meg kell figyelni a betegeket a várható regresszió miatt. Saját eseteikben csak a növekvo tumorrész excochleatióját végezték, foleg kozmetikai okok és a szövettan biztosítása érdekében. Orv Hetil. 2022; 163(11): 446-452. Summary. Cherubism is a rare autosomal, dominant bone disorder, characterised by symmetrical expansion of the jaws along the typical radiological and genetic (SH3BP2 mutation) features. It belongs to the heterogenous group of fibro-osseous lesions. Its histology is the same as that of giant-cell granuloma. The bone lesions and fibrous tissue expansion increase before puberty and regress thereafter. For the first time in Hungarian medical literature, the authors discuss the condition of cherubism in the case of three siblings. The diagnosis of these three siblings is supported by the clinical, radiological, microscopic and genetic data. In all three, the bone lesions and fibrous tissue expansion increased before puberty and stabilized thereafter. The radiological results and the molecular findings were nearly identical. The identical mutation shown in the germ lines of the three siblings and the mother correspond to a dominantly inherited syndrome (e.g., cherubism) even if the condition did not manifest in the mother. The authors summarize the treatment options of the disease: surgical (excochleation, decountouring, in rare case resection) and drug (bisphosphonate, calcitonin, steroid, etc.) therapy. They agree with those who are of the opinion that interventions should wait and the patients should be observed ("wait and see") for the expected regression. In their own cases, only excochleation of the growing tumor was performed, mainly for cosmetic reasons and to secure the tissue. Orv Hetil. 2022; 163(11): 446-452.
Subject(s)
Cherubism , Adaptor Proteins, Signal Transducing/genetics , Adaptor Proteins, Signal Transducing/metabolism , Cherubism/diagnosis , Cherubism/genetics , Cherubism/pathology , Humans , Mutation , SiblingsABSTRACT
PURPOSE OF REVIEW: To review the current literature of sterile bone inflammation in childhood and to evaluate the evidence for clinical care including diagnostic methods and treatment. RECENT FINDINGS: Chronic noninfectious osteomyelitis includes several different entities marked by sterile bone inflammation associated with histologic evidence of a predominant neutrophil infiltration in the absence of autoantibodies and autoreactive T cells, some of which are associated with a genetic mutation. Whole body MRI is helpful in detecting asymptomatic lesions. Initial treatment with NSAIDs is usually sufficient to control symptoms as the bone heals. However, if the lesions persist and do not respond to first-line treatment, or involve the spine or hip, treatment with bisphosphonate will usually lead to a resolution of symptoms. Rarely, treatment with anti-TNF agents is required. SUMMARY: This review summarizes recent information on diagnosis, treatment and prognosis of disorders involving sterile bone inflammation in childhood. It also addresses the evolving differential diagnosis for autoinflammatory disorders that include sterile bone inflammation and presents a treatment algorithm for management.
Subject(s)
Osteitis/therapy , Acquired Hyperostosis Syndrome/diagnosis , Acquired Hyperostosis Syndrome/etiology , Acquired Hyperostosis Syndrome/therapy , Anemia, Dyserythropoietic, Congenital/diagnosis , Anemia, Dyserythropoietic, Congenital/etiology , Anemia, Dyserythropoietic, Congenital/therapy , Anti-Inflammatory Agents, Non-Steroidal/therapeutic use , Cherubism/diagnosis , Cherubism/etiology , Cherubism/therapy , Child , Female , Hereditary Autoinflammatory Diseases/diagnosis , Hereditary Autoinflammatory Diseases/etiology , Hereditary Autoinflammatory Diseases/therapy , Humans , Immunologic Deficiency Syndromes , Interleukin 1 Receptor Antagonist Protein , Magnetic Resonance Imaging , Male , Osteitis/diagnosis , Osteitis/etiology , Osteomyelitis/diagnosis , Osteomyelitis/etiology , Osteomyelitis/therapyABSTRACT
Cystic angiomatosis of bone is a rare condition of multifocal angiomas of the skeleton. The condition is believed to be congenital, grows slowly and starts in first decades of life. Two cases of progressive bimaxillary enlargement, presented here with a history of slowly enlargement of facial bones when they were 9 and 6 year old, respectively. Radiographic evaluation of the craniofacial bones revealed aggressive hypertrophy with severe displacement of the teeth. The histopathological evaluation of the gross specimen showed vital bone containing capillary and cavernous spaces with endothelial lining. Aggressive cystic angiomatosis of the facial bones was described here as the most probable diagnosis.
Subject(s)
Angiomatosis/diagnosis , Bone Diseases/diagnosis , Facial Bones/pathology , Adolescent , Alveolar Process/blood supply , Alveolar Process/pathology , Bone Marrow/pathology , Capillaries/abnormalities , Cherubism/diagnosis , Diagnosis, Differential , Endothelial Cells/pathology , Female , Frontal Bone/pathology , Humans , Hypertrophy , Male , Mandibular Diseases/diagnosis , Maxillary Diseases/diagnosis , Occipital Bone/pathology , Vascular Malformations/diagnosis , Zygoma/pathologySubject(s)
Cherubism/diagnosis , Granuloma, Giant Cell/diagnosis , Mandibular Diseases/diagnosis , Adult , Antigens, CD/analysis , Antigens, Differentiation, Myelomonocytic/analysis , Biopsy, Fine-Needle , Cherubism/pathology , Cherubism/surgery , Diagnosis, Differential , Granuloma, Giant Cell/pathology , Granuloma, Giant Cell/surgery , Humans , Iron/analysis , Magnetic Resonance Imaging , Male , Mandible/pathology , Mandibular Diseases/pathology , Mandibular Diseases/surgery , Tomography, X-Ray ComputedSubject(s)
Cherubism/diagnosis , Adolescent , Biopsy , Diagnosis, Differential , Humans , Male , Radiography, PanoramicABSTRACT
Cherubism is a benign maxillary bone dysplasia of childhood, usually showing an autosomically dominant inheritance with variable penetrance and spontaneously resolving after puberty. Only maxillary bones are affected and develop pseudocystic osteolytic lesions. This article presents an early and rapidly evolving familial case of cherubism. The 3-year-old child underwent conservative curettage of lesions, with a conservative approach that allowed a normal permanent dentition in adolescence. Family history revealed that the father had been treated for similar lesions between 14 and 21 years of age, but the late treatment caused edentulism. In conclusion, although cherubism represents a benign and localized maxillary dysplasia, it requires prompt surgical but conservative treatment and careful follow-up to avoid permanent lesions, that is, malocclusion and/or edentulism.