Uma doença genética, não-hereditária, causada por falhas no desenvolvimento das células que formam o osso, resultando na substituição da medula óssea e do osso esponjoso por tecido fibroso e osso imaturo. Geralmente afeta um único osso e, com menos frequência, vários ossos. O crânio, o fêmur (osso da coxa), a tíbia (osso da canela) e o úmero (osso do braço) são os ossos mais frequentemente afetados. Manifesta-se com dor, deformidades e fraturas.
Introdução
O que você precisa saber de cara
Uma doença genética, não-hereditária, causada por falhas no desenvolvimento das células que formam o osso, resultando na substituição da medula óssea e do osso esponjoso por tecido fibroso e osso imaturo. Geralmente afeta um único osso e, com menos frequência, vários ossos. O crânio, o fêmur (osso da coxa), a tíbia (osso da canela) e o úmero (osso do braço) são os ossos mais frequentemente afetados. Manifesta-se com dor, deformidades e fraturas.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Entender a doença
Do básico ao detalhe, leia no seu ritmo
Preparando trilha educativa...
Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 27 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 62 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
1 gene identificado com associação a esta condição. Padrão de herança: Not applicable.
May inhibit the adenylyl cyclase-stimulating activity of guanine nucleotide-binding protein G(s) subunit alpha which is produced from the same locus in a different open reading frame
Cell membraneCell projection, ruffle
Variantes genéticas (ClinVar)
467 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
6 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Displasia óssea fibrosa
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Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Ensaios em destaque
🟢 Recrutando agora
2 pesquisas recrutando participantes. Converse com seu médico sobre a possibilidade de participar.
Outros ensaios clínicos
32 ensaios clínicos encontrados, 4 ativos.
Publicações mais relevantes
[Florid cemento-osseous dysplasia: A case report].
Cemento-osseous dysplasia (COD) is an uncommon, non-neoplastic benign fibro-osseous lesion of the jaws, characterized by cementum-like tissue deposition. It primarily affects middle-aged women of African and East Asian descent. Generally asymptomatic, this condition is frequently identified incidentally through radiographs showing radiopacities with radiolucent rims. This report presented a case of florid cemento-osseous dysplasia (FLCOD) in a 45-year-old Asian female. The patient exhibited secondary caries extending to the pulp chamber on the left mandibular first molar, showed no signs of pulpitis or periapical pathosis. Adjacent tooth (the left mandibular third molar) and contralateral molars (the right mandibular molars) responded normally to pulp vitality testing, with no swelling, sinus tracts, or mobility observed. Cone beam computed tomography (CBCT) revealed multifocal lesions with amorphous radiopacities and thin radiolucent rims without root resorption or cortical perforation in the periapical regions of bilateral mandibular molars. These findings reflected characteristic radiographic features of FLCOD, aligning with the World Health Organization (WHO) 2022 classification criteria. Significantly, three radiographic stages of COD were concurrently demonstrated through multifocal lesions involving six mandibular molars, providing a representative model of its natural progression. The initial osteolytic stage in teeth 38, 46, and 48 manifested as well-defined periapical radiolucencies with sclerotic borders; the intermediate stage in 36 and 37 featured punctate or nodular radiopacities within periapical radiolucency; while the mature terminal stage in 47 presented a homogeneous radiopaque mass bordered by a thin radiolucent rim. The diagnostic process prioritized exclusion of chronic apical periodontitis through confirmed pulp vitality and absence of infection. Cemento-ossifying fibroma (COsF) was dismissed based on solitary presentation and cortical expansion. Familial gigantiform cementoma (FGC) was differentiated by early diffuse jaw expansion and extensive involvement beyond COD. Cementoblastoma exclusion relied on pathognomonic features, specifically root resorption or compromised pulp vitality. Given the asymptomatic, non-progressive behavior of the FLCOD lesions, annual surveillance was implemented, with intervention limited to the restorative failure in tooth 36. At 12-month follow-up, the FLCOD lesions showed clinical-radiographic stability without secondary infection or progression. This case reflected the classic presentation of FLCOD as incidental, multifocal mandibular posterior radiopacities bordered by radiolucent rims. CBCT proved instrumental in delineating the lesions, providing diagnostic evidence. Long-term surveillance remains the cornerstone of management for COD. Invasive procedures are not recommended in cases with asymptomatic non-progressive behavior to prevent surgical complications. 牙骨质-骨结构不良(cemento-osseous dysplasia, COD)属于临床少见的一种纤维-骨肿瘤及结构不良, 病变通常无症状, 多通过X线检查偶然发现。本文报道1例就诊于北京大学国际医院口腔科的45岁女性繁茂型牙骨质-骨结构不良(florid cemento-osseous dysplasia, FLCOD)病例, 患者因左下后牙充填体脱落3周就诊, 临床检查发现左下颌第一磨牙(36)存在继发龋坏达髓腔, 但无牙髓炎或根尖周病症状。邻近牙齿(左下颌第三磨牙)及对侧磨牙(右下颌第一、二、三磨牙)牙髓活力测试反应正常, 无肿胀、窦道或牙齿松动。锥形束CT(cone beam computed tomography, CBCT)检查显示, 双侧下颌磨牙根尖周区域存在多灶性混合密度病变, 符合世界卫生组织制定的FLCOD诊断标准。病变累及的6颗牙齿(36、37、38、46、47和48)根尖周影像学表现多样, 呈现骨质溶解破坏期、类牙骨质小体形成期与钙化成熟期三期并存的特征。本病例为临床少见的FLCOD病例, 诊断主要依据其无临床症状的病程、牙髓状态及典型的影像学表现。CBCT在清晰显示病变、提供诊断依据方面发挥了关键作用。治疗策略上应着重处理患者的继发龋等伴发病变, 控制局部与全身风险因素, 而非针对COD病变本身进行干预, 预后还需长期随访。
Addressing the unmet challenge of pain in rare bone diseases: new insights from the RUDY UK registry.
Pain is a common symptom in many rare bone disorders, often linked to depression and a substantial decline in quality of life. However, there is little information on the quality of the pain which may provide insights into pain mechanisms. This study aimed to describe and compare the frequency and characteristics of self-reported pain in adults with Fibrous Dysplasia of Bone/McCune-Albright Syndrome (FD/MAS), Osteogenesis Imperfecta (OI), and X-linked Hypophosphatemia (XLH). A cross-sectional study was conducted using the online UK RUDY registry. Adults with self -reported FD/MAS, OI, and XLH who completed the painDETECT questionnaire (PD-Q) were included. Pain prevalence and phenotypes were assessed using baseline PD-Q responses which were also mapped to a modified widespread pain index as a measure of generalized pain. Descriptive analyses were performed using R®. A total of 281 adults completed the baseline PD-Q (94 FD/MAS, 94 OI, and 93 XLH). Among these, 86% of patients currently experienced pain and 47% reported severe strongest pain in the past four weeks, with no significant differences between conditions. Pain prevalence and phenotype were similar across diseases, though pain sites differed. Neuropathic-like pain and female sex were significantly associated with poorer pain outcomes, including higher pain prevalence and intensity (p < 0.05). Generalized pain (18%) was significantly associated with moderate to severe anxiety (p = 0.03), depression (p < 0.001) and sleep impairment (p < 0.001). Despite distinct pathophysiological mechanisms, pain distribution appears similar across these bone diseases, suggesting a major role for non-skeletal factors. Generalized pain was frequent and associated with anxiety, depression, and sleep disturbances, suggesting nociplastic features maybe a significant driver of pain in adults with rare bone diseases. The online version contains supplementary material available at 10.1186/s13023-025-04167-4.
In vitro characterization of osteoblasts from craniofacial fibrous dysplasia of bone and their impact on bone homeostasis.
Combining cryopreserved autografts and vascularized bone flap for craniofacial defect reconstruction in fibrous dysplasia: a case report.
Polyostotic fibrous dysplasia (PFD) is a rare, benign skeletal disorder characterized by the replacement of normal bone with fibro-osseous tissue. Craniofacial involvement often results in progressive deformities, functional impairments, and aesthetic concerns. Surgical intervention aims to remove diseased bone and restore structure and function, employing techniques like vascularized bone flaps, autografts, and cryopreserved bone. This report presents a case utilizing cryopreservation combined with vascularized fibula flap for craniofacial reconstruction. A 28-year-old male presented with a 10-year history of painless swelling in the right hemifacial region. Imaging revealed a ground-glass opacity encompassing the maxillary sinus, zygomaticomaxillary complex, and orbital floor. Histopathological analysis confirmed polyostotic fibrous dysplasia. Surgical resection of the affected bone was followed by reconstruction using cryopreserved autografts processed with liquid nitrogen and a vascularized fibula flap. This approach ensured elimination of tumorous cells while preserving structural integrity and restoring vascular supply. Postoperative recovery was uneventful, and follow-up over 1 year demonstrated excellent bone viability, functional restoration, and cosmetic improvement. Cryopreservation and vascularized bone flaps offer promising reconstructive modalities for extensive craniofacial defects. Combining these techniques ensures structural preservation, reduced donor-site morbidity, and restoration of functionality. Innovative multidisciplinary approaches continue to enhance surgical outcomes in PFD management. Combining cryopreserved autografts with vascularized fibula flap reconstruction offers a promising strategy for craniofacial defects in fibrous dysplasia, ensuring structural integrity, functional restoration, and favorable cosmetic outcomes.
Why was the concordance rate of imaging and clinical diagnosis in cemento-osseous dysplasia low? A retrospective study of 55 cases.
The World Health Organization (WHO) recommends that cemento-osseous dysplasia (COD) be diagnosed based on imaging findings, avoiding biopsy when possible. This study aimed to evaluate the concordance between imaging and clinical diagnoses in 55 COD patients, and to identify key clinical and radiographic features that may help prevent unnecessary biopsy or inappropriate treatment. Between September 1, 2017, and August 31, 2018, 55 patients diagnosed with COD were randomly selected from the imaging database of West China Hospital of Stomatology. Two radiologists reviewed all cases to assess correlations between COD variants and clinical symptoms, identify common misdiagnoses, and examine subsequent treatment decisions. The cohort showed a strong female predominance (female: male = 48:7). The concordance rate between imaging and clinical diagnoses was only 1.8% (1/55); the remaining 98.2% were either misdiagnosed or overlooked clinically. Most lesions were incidentally discovered on radiographs (65%), while others were associated with tooth pain (18%), facial swelling (9%), tooth mobility (5%), or abscess (2%). A statistically significant difference was found between symptomatic and asymptomatic groups across COD variants (Fisher's Exact Test, P < 0.05; Cramer's V = 0.45, 95% CI: 0.28-0.67). Among 27 clinically overlooked cases, only one was correctly diagnosed. Misdiagnoses included tooth-related diseases (n = 10), tumors or cysts (n = 6), osteomyelitis (n = 3), bone islands (n = 1), and mixed diagnoses (n = 7). No significant differences were observed in COD variants, treatment duration, or the number of clinical visits and departments among the misdiagnosed cases. The only correctly diagnosed patient received surgical curettage. Twenty-two patients received no treatment. Others underwent root canal therapy, extraction, curettage, or combinations thereof. Some patients also received dental implants or orthodontic treatment. Cemento-osseous dysplasia (COD), a type of non-neoplastic fibro-osseous lesion of the jaw, is frequently misdiagnosed in clinical practice. These diagnostic errors often lead to unnecessary interventions and complications. Enhanced clinician training in radiographic interpretation-particularly the use of cone-beam computed tomography (CBCT)-is essential for enhancing diagnostic accuracy and guiding appropriate management.
Publicações recentes
Endoscopic Endonasal Resection of Fibro-Osseous Lesions Involving the Nasal Turbinates: A Report of Two Cases and a Literature Review.
Combining cryopreserved autografts and vascularized bone flap for craniofacial defect reconstruction in fibrous dysplasia: a case report.
Anesthetic management of a patient with McCune-Albright syndrome complicated by pathological cervical fracture: a case report.
In vitro characterization of osteoblasts from craniofacial fibrous dysplasia of bone and their impact on bone homeostasis.
Why was the concordance rate of imaging and clinical diagnosis in cemento-osseous dysplasia low? A retrospective study of 55 cases.
📚 EuropePMC226 artigos no totalmostrando 197
Combining cryopreserved autografts and vascularized bone flap for craniofacial defect reconstruction in fibrous dysplasia: a case report.
International journal of surgery case reportsIn vitro characterization of osteoblasts from craniofacial fibrous dysplasia of bone and their impact on bone homeostasis.
Orphanet journal of rare diseasesWhy was the concordance rate of imaging and clinical diagnosis in cemento-osseous dysplasia low? A retrospective study of 55 cases.
BMC oral healthMedication-related osteonecrosis of the jaw in patient with McCune-Albright syndrome: A rare case report.
Journal of oral and maxillofacial pathology : JOMFPClinicopathological analysis of osteofibrous dysplasia and adamantinoma: A single institution experience.
Annals of diagnostic pathology[Florid cemento-osseous dysplasia: A case report].
Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciencesAddressing the unmet challenge of pain in rare bone diseases: new insights from the RUDY UK registry.
Orphanet journal of rare diseases[Familial florid cemento-osseous dysplasia with ANO5 mutation: a case report].
Zhonghua kou qiang yi xue za zhi = Zhonghua kouqiang yixue zazhi = Chinese journal of stomatologyGαs variant detection discerns skeletal cell types involved in fibrous dysplasia pathogenesis.
BoneA Case of an 80-Year-Old Woman With Chronic Eosinophilic Pneumonia and Clinically Significant Giant Hepatic Hemangioma.
CureusDelayed Diagnosis of McCune-Albright Syndrome in Adulthood Revealed by Spinal Fibrous Dysplasia: Report of 2 Cases.
JCEM case reportsThe GNAS Gene: Fibrous Dysplasia, McCune-Albright Syndrome, and Skeletal Structure and Function.
GenesCemento-osseous dysplasia with concomitant cemento-ossifying fibroma: a rare case report.
Oral surgery, oral medicine, oral pathology and oral radiologyBenign fibro-osseous lesions of the cranio-maxillofacial bones: an updated review with special emphasis on molecular pathogenesis.
Journal of bone and mineral metabolismConcavities of the margins of focal bone lesions on MRI: a retrospective study of 586 cases.
Insights into imagingAssessment of dural involvement in calvarial and skull base fibrous dysplasia.
Neuro-ChirurgieAssessment of Deep Convolutional Neural Network Models for the Classification of Benign Fibro-Osseous Lesions of the Jaws.
Clinical and experimental dental research[Endoscopic optic nerve decompression for benign fibro-osseous lesions of the nasal and skull base].
Zhonghua er bi yan hou tou jing wai ke za zhi = Chinese journal of otorhinolaryngology head and neck surgeryChildhood fibrous dysplasia.
Orthopaedics & traumatology, surgery & research : OTSRA rare case of McCune-Albright syndrome in a young male with hyperthyroidism and hypertrophic scars.
Oxford medical case reportsClinical, Radiographic and Histopathological Analysis of Cemento-Ossifying Fibromas and Fibro-Osseous Lesions of the Oral and Maxillofacial Region: A 53-Year Retrospective Study and Update of Current Concepts.
Journal of oral pathology & medicine : official publication of the International Association of Oral Pathologists and the American Academy of Oral Pathology[Primary-chronic osteomyelitis and fibrous dysplasia of the mandible in children. Differential diagnosis and treatment].
StomatologiiaSingle-cell analysis of human fibrous dysplasia bone reveals a fibrotic transcriptome and GNAS variants in endothelial, perivascular, and stromal cells.
American journal of human geneticsClinical characteristics of simple bone cyst associated within florid cemento-osseous dysplasia: a meta-analysis.
Medicina oral, patologia oral y cirugia bucalOne-stage surgical correction of Shepherd's crook deformity in fibrous dysplasia using fibular strut allograft augmentation: a retrospective case-series.
International orthopaedics[Precocious puberty in the McCune-Albright Syndrome: a case report].
The Pan African medical journalClinical and radiologic outcomes of dental implants in cemento-osseous dysplasia: a systematic review and retrospective case series.
BMC oral healthProtein kinase A is a dependent factor and therapeutic target in mouse models of fibrous dysplasia.
Nature communicationsMcCune-Albright syndrome: a case of an adult with fibrous dysplasia, severe cardiopulmonary complications, acromegaly, and chronic myeloid leukemia.
JBMR plusAlterations of TGFBR2 and KRAS in cemento-osseous dysplasia of the jaw.
Oral surgery, oral medicine, oral pathology and oral radiologySurgical Management of Fibrous Dysplasia and Associated Syndromes.
The Journal of the American Academy of Orthopaedic SurgeonsPain in fibrous dysplasia: identifying nociceptive mechanisms in a preclinical model.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral ResearchCemento-osseous dysplasia: a multi-centre analysis of surgical management.
Oral and maxillofacial surgeryBone pain in fibrous dysplasia does not rely on aberrant sensory nerve sprouting or neuroma formation.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral ResearchFeasibility of non-radical resection combined with internal fixation for adolescents with lower limb fibrous dysplasia: a single-center retrospective study with a small sample size.
Journal of orthopaedics and traumatology : official journal of the Italian Society of Orthopaedics and TraumatologyArthroscopic-assisted uni-portal non-coaxial endoscopic surgery treatment of fibrous dysplasia of the femur: a minimally invasive alternative to open surgery.
BMC musculoskeletal disordersSurgical treatment of fibrous dysplasia in the proximal femur: a literature review.
European journal of orthopaedic surgery & traumatology : orthopedie traumatologieComputer-assisted planning and modeling for the surgical treatment of patients with fibrous dysplasia of cranial vault and base.
Zhurnal voprosy neirokhirurgii imeni N. N. BurdenkoClival fibrous dysplasia in which short interval disease progression posed a diagnostic challenge in a skeletally mature patient: a case report.
Journal of medical case reportsOSTEOSARCOMA IN A PATIENT WITH CRANIAL FIBROUS DYSPLASIA: A CASE REPORT.
Acta clinica CroaticaComparative study of radio-clinical parameters in pediatric forms of fibrous dysplasia and chronic recurrent multifocal osteomyelitis.
Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial SurgeryCemento-osseous Dysplasia Mimicking Periapical Cyst After the Orthodontic Treatment of the Mandible.
The Journal of craniofacial surgeryDenosumab usage in atypical cemento-osseous dysplasia involving the entire mandible: a case report.
BMC oral healthTriangular Margin: Reliable Imaging Feature of Fibrous Dysplasia in Long Bones?
Journal of computer assisted tomographyRobotic-assisted costectomy using a Gigli saw for fibrous dysplasia.
Journal of cardiothoracic surgeryClassification of Fibro-Osseous Tumors in the Craniofacial Bones Using DNA Methylation and Copy Number Alterations.
Modern pathology : an official journal of the United States and Canadian Academy of Pathology, IncFibrous Dysplasia of the Ethmoid Bone Diagnosed in a 10-Year-Old Patient.
Medicina (Kaunas, Lithuania)[Total modular hip arthroplasty for fracture in pathological terrain secondary to fibrous dysplasia. Presentation of a clinical case and literature review].
Acta ortopedica mexicanaHigh PSMA Avidity, Yet Still Benign: The Importance of CT Morphology for Diagnosing Fibrous Dysplasia on PSMA-Targeted PET/CT.
Clinical nuclear medicineMonostotic Fibrous Dysplasia with Rare Histopathologic Features: A Case Report.
Iranian journal of medical sciences[GNAS mutational analysis in differentiating fibrous dysplasia and liposclerosing myxofibrous tumor].
Zhonghua bing li xue za zhi = Chinese journal of pathologyFibrous dysplasia in the alveolar crest of edentulous site and the curettage for future implant placement: a case report.
BMC oral healthInteraction Between Sclerostin and Mast Cells in Fibro-Osseous Lesions of the Jaws.
Oral diseasesPredicting craniofacial fibrous dysplasia growth status: an exploratory study of a hybrid radiomics and deep learning model based on computed tomography images.
Oral surgery, oral medicine, oral pathology and oral radiologySafety and Efficacy of Moderate-dose Denosumab in Fibrous Dysplasia: Observational Results From a Phase 2 Clinical Trial.
The Journal of clinical endocrinology and metabolismManagement of post-implant fibrous dysplasia in the maxilla: A case study.
Clinical advances in periodonticsBone Regeneration and Dental Implant Surgeries in Florid Cemento-Osseous Dysplasia: A Case Report.
The Journal of oral implantologyDental implants versus removable prostheses for the management of edentulous sites in patients with florid cemento-osseous dysplasia: A systematic review of literature with a follow-up period of at least 3 years.
International journal of oral implantology (Berlin, Germany)Skeletal Phenotype in Mulibrey Nanism, A Monogenic Skeletal Dysplasia With Fibrous Dysplasia.
Clinical geneticsComputer-assisted contouring combined with bone ostectomy for dental implant placement of craniofacial fibrous dysplasia involving the right maxilla.
Quintessence international (Berlin, Germany : 1985)Concurrent fibrous dysplasia is associated with a high incidence of cystic formation in vestibular schwannomas.
Neurosurgical reviewRadiotherapy Combined With Zoledronic Acid for Fibrous Dysplasia With a Central Giant Cell Granuloma: A Case Report.
Head & neckExploring mutations: GNAS and CDC73 in jaw fibroosseous lesions.
Pathology, research and practiceTreatment indications for symptomatic versus asymptomatic florid cemento-osseous dysplasia in adult patients: a systematic review.
Oral surgery, oral medicine, oral pathology and oral radiologyFibroblast Activation Protein Is Expressed by Altered Osteoprogenitors and Associated to Disease Burden in Fibrous Dysplasia.
CellsUndifferentiated sarcoma arising from fibrous dysplasia in a young adult.
Orthopadie (Heidelberg, Germany)A genetic mouse model mimicking MET related human osteofibrous dysplasia is characterized by delays in fracture repair and defective osteogenesis.
FASEB journal : official publication of the Federation of American Societies for Experimental BiologyA Mathematical Model for Fibrous Dysplasia: The Role of the Flow of Mutant Cells.
Bulletin of mathematical biologyMazabraud's syndrome in female patients: Two case reports.
World journal of orthopedicsFibrous Dysplasia of the Parietal Bone with Focal Motor Seizures: A Case Report.
The American journal of case reportsAre implant-based treatments considered viable for patients with focal or florid cemento-osseous dysplasia? A systematic review.
Maxillofacial plastic and reconstructive surgeryVitamin D Attenuates Fibrotic Properties of Fibrous Dysplasia-Derived Cells for the Transit towards Osteocytic Phenotype.
International journal of molecular sciencesTranscriptomic Signature and Pro-Osteoclastic Secreted Factors of Abnormal Bone-Marrow Stromal Cells in Fibrous Dysplasia.
CellsPatient-Derived Organoids Recapitulate Pathological Intrinsic and Phenotypic Features of Fibrous Dysplasia.
Cells[Osteosarcoma Secondary to Polyostotoic Fibrous Dysplasia of the Ribs].
Kyobu geka. The Japanese journal of thoracic surgeryCraniomaxillofacial Fibro-osseous Lesions in Children.
Oral and maxillofacial surgery clinics of North AmericaMandibular rhabdomyosarcoma with TFCP2 rearrangement and osteogenic differentiation: a case misdiagnosed as fibrous dysplasia or low-grade central osteosarcoma.
Oral surgery, oral medicine, oral pathology and oral radiologyMazabraud Syndrome: Clinical Review and Therapeutic Approach Regarding a Case Report.
Acta medica portuguesaDilemma with implant placement in patients with florid cemento-osseous dysplasia: A literature review.
Science progressFibrocartilaginous Dysplasia of the Proximal Femur in Two Pediatric Patients, Including a Pathologic Fracture in a Patient With McCune-Albright Syndrome.
Fetal and pediatric pathologyFibrous dysplasia of the head and neck in Southern Finland: a retrospective study on clinical characteristics, diagnostics, and treatment.
European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck SurgeryOssifying fibroma mimiking jaw tumour: A radiographic dilema.
Journal of cancer research and therapeuticsOsteofibrous dysplasia: a narrative review.
Journal of orthopaedic surgery and researchCystic degeneration of the fibrous dysplasia presenting with loss of vision.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryThe Role of Surveillance in Predicting Fracture in Pediatric Patients With Incidentally Discovered Nonossifying Fibromas and Fibrous Cortical Defects: Is It Worth It?
Journal of pediatric orthopedicsImaging of Fibro-osseous Lesions and Other Bone Conditions of the Jaws.
Dental clinics of North AmericaHistomorphometric and molecular characterization of stromal and mineralized components in fibro-osseous lesions.
Indian journal of pathology & microbiologyFibrous dysplasia with aneurysmal bone cyst-like change occurring in pediatric orbit: case report and literature review.
Oral and maxillofacial surgeryRANKL inhibition reduces lesional cellularity and Gαs variant expression and enables osteogenic maturation in fibrous dysplasia.
Bone researchComparison of 18 F-FAPI and 18 F-FDG PET/CT in a Patient With Fibrous Dysplasia.
Clinical nuclear medicineA pathogenic role for brain-derived neurotrophic factor (BDNF) in fibrous dysplasia of bone.
BoneDiagnostic journey for individuals with fibrous dysplasia / McCune albright syndrome (FD/MAS).
Orphanet journal of rare diseases[A Case of Breast Cancer Complicated by Fibrous Dysplasia That Was Difficult to Differentiate from Bone Metastasis].
Gan to kagaku ryoho. Cancer & chemotherapyERN BOND: The key European network leveraging diagnosis, research, and treatment for rare bone conditions.
European journal of medical genetics[McCune-Albright syndrome: a case report and literature review].
The Pan African medical journalA rare cause of low back pain: fibrous dysplasia of the iliac bone.
Rheumatology (Oxford, England)Fibrous Dysplasia With Atypical Bilateral Upper Extremity Pattern.
Clinical nuclear medicineFibrous dysplasia in children and its management.
Current opinion in endocrinology, diabetes, and obesityCraniofacial Fibrous Dysplasia in Fronto-Orbital Region: A Single-Center Retrospective Study of 38 Cases.
World neurosurgeryAssociation of hyperparathyroidism and benign fibro-osseous jaw tumors: a 25-year retrospective study at Mayo Clinic.
Oral and maxillofacial surgerySerum Phosphorus as a Driver of Skeletal Morbidity in Fibrous Dysplasia.
The Journal of clinical endocrinology and metabolismA Rare Skeletal Disorder, Fibrous Dysplasia: A Review of Its Pathogenesis and Therapeutic Prospects.
International journal of molecular sciencesOrbital Roof Decompression and Transposition of Orbital Contents for Treatment of Orbital Deviation Associated With Fibrous Dysplasia.
The Journal of craniofacial surgeryDiagnosis and treatment of McCune-Albright syndrome: A case report.
World journal of clinical casesAlveolar Bone Box Ostectomy Grafted with Particulate Bone Substitute with Subsequent Dental Implant Placement in a Case of Craniofacial Fibrous Dysplasia Involving the Posterior Maxilla: Case Report and Literature Review.
Journal of clinical medicineCraniofacial fibrous dysplasia: Systematic review of facial management.
Journal of stomatology, oral and maxillofacial surgeryPhenotyping Pain in Patients With Fibrous Dysplasia/McCune-Albright Syndrome.
The Journal of clinical endocrinology and metabolismMultimodal imaging diagnosis for bone fibrous dysplasia malignant transformation: A case report.
Biomedical reportsValue of rare diseases reference centers: impact on diagnosis and access to specialized care in fibrous dysplasia of bone.
European journal of medical geneticsLytic Mastoid Lesion in a Patient with Otalgia.
Head and neck pathologyFibrous dysplasia mimicking as invasive lung cancer.
The American journal of the medical sciencesBilateral total hip arthroplasty in a case with fibrous dysplasia: a case report.
Journal of medical case reportsEfficacy of antiresorptive agents in fibrous dysplasia and McCune Albright syndrome, a systematic review and meta-analysis.
Reviews in endocrine & metabolic disordersRefractory and progressively worsening nasal obstruction: case report of nasal osteoblastoma and literature review.
Frontiers in oncologyCase Report Of Rib Polyostotic Fibrous Dysplasia.
JPMA. The Journal of the Pakistan Medical AssociationLate Periprosthetic Femoral Stress Fracture Associated with Extra-articular Deformity in a Patient with Fibrous Dysplasia: A Case Report.
JBJS case connectorLesion Expansion in Gnathic Fibrous Dysplasia: Natural History, Indicators of Progression, and Response to Bisphosphonates.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral ResearchLetter regarding - Denosumab use in bone fibrous dysplasia refractory to bisphosphonate: A retrospective multicentric study.
BoneOrthognathic surgery in patients treated with bisphosphonates: A case series.
Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial Surgery[Clinical features of Chilean patients with Fibrous Dysplasia/McCune-Albright Syndrome].
Revista medica de ChileSecondary aneurysmal bone cyst of the frontal bone with fibrous dysplasia showing rapid expansion: a case report.
Nagoya journal of medical scienceDenosumab use in bone fibrous dysplasia refractory to bisphosphonate: A retrospective multicentric study.
BoneBrain and eye involvement in McCune-Albright Syndrome: clinical and translational insights.
Frontiers in endocrinologyComputer-guided contouring of craniofacial fibrous dysplasia involving fronto-orbital or fronto-cranial region using patient specific surgical depth guide: A prospective case series.
Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial SurgeryMazabraud's syndrome: A case report supported by molecular studies and review of the literature.
Bone reportsMcCune-Albright Syndrome: A Case Report and Review of Literature.
International journal of molecular sciencesThe Natural History of Fibrous Dysplasia of the Orbit.
Plastic and reconstructive surgeryPTHrP Modulates the Proliferation and Osteogenic Differentiation of Craniofacial Fibrous Dysplasia-Derived BMSCs.
International journal of molecular sciencesCoxa Vara Deformity in Fibrous Dysplasia/McCune-Albright Syndrome: Prevalence, Natural History and Risk Factors: A Two-Center Study.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral ResearchFibrous Dysplasia of Temporal Bone Presented as a Solitary Osteochondroma: A Case Report.
Journal of orthopaedic case reportsPatient with McCune albright syndrome: Case report and 10 Years of follow-up imaging examination.
Journal of clinical and experimental dentistryClinical value of RANKL, OPG, IL-6 and sclerostin as biomarkers for fibrous dysplasia/McCune-Albright syndrome.
Bone[Aesthetic rehabilitation of a case of maxillary fibrous dysplasia in a child].
Swiss dental journalCraniofacial Fibrous Dysplasia: Clinical and Therapeutic Implications.
Current osteoporosis reportsSafety and Efficacy of Denosumab for Fibrous Dysplasia of Bone.
The New England journal of medicineSynchronous jawbone diseases: a multicenter retrospective study.
Brazilian oral researchThe Virtual Surgical Management of Facial Fibrous Dysplasia.
The Journal of craniofacial surgeryIntracranial Dermoid in Patients With Fibrous Dysplasia.
The Journal of craniofacial surgeryEctopic Fibrous Dysplasia Presenting As a Well-Circumscribed Orbital Mass.
Ophthalmic plastic and reconstructive surgeryExpression of RANKL in breast cancer tissue in patients with fibrous dysplasia/McCune-Albright syndrome.
BoneIdentification of GNAS Variants in Circulating Cell-Free DNA from Patients with Fibrous Dysplasia/McCune Albright Syndrome.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral ResearchSevere craniofacial fibrous dysplasia associated with decreased visual acuity: a case report.
General dentistryA multidisciplinary care pathway improves quality of life and reduces pain in patients with fibrous dysplasia/McCune-Albright syndrome: a multicenter prospective observational study.
Orphanet journal of rare diseasesNavigator-Assisted Transnasal Approach for Optic Decompression in a Patient With Orbitofrontal Fibrous Dysplasia.
The Journal of craniofacial surgeryFibrous Dysplasia Obliterating the Inner Ear End-Organs.
Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and NeurotologyNonspecific Cystic Degeneration in Craniofacial Fibrous Dysplasia: A Rare Finding.
Contemporary clinical dentistryA Novel Bone Contouring Technique Using Multiple Tangential Shaving for Conservative Management of Craniofacial Fibrous Dysplasia.
The Journal of craniofacial surgeryThoracic Mazabraud's Syndrome: Unusual Location.
Archivos de bronconeumologiaMalignant Sarcomatous Degeneration of Craniofacial Fibrous Dysplasia.
The Journal of craniofacial surgeryACTH-independent Cushing's syndrome due to ectopic endocrinologically functional adrenal tissue caused by a GNAS heterozygous mutation: a rare case of McCune-Albright syndrome accompanied by central amenorrhea and hypothyroidism: a case report and literature review.
Frontiers in endocrinologyDenosumab Use in Adults With Fibrous Dysplasia: Case Reports and Review of the Literature.
Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical EndocrinologistsSecondary osteosarcoma associated with osteofibrous dysplasia: a case report.
Skeletal radiologyFlorid cemento-osseous dysplasia-related osteonecrosis: A series of cases.
Annals of diagnostic pathologyA case report of McCune-Albright syndrome with hepatic manifestations.
Clinical case reportsSurgical management of syndromic versus non-syndromic craniofacial fibrous dysplasia: a systematic review and meta-analysis.
The British journal of oral & maxillofacial surgeryPediatric Cases of Recurrent Skull Giant Osteoma Misdiagnosed as Fibrous Dysplasia.
The Journal of craniofacial surgeryA Comprehensive Understanding of the Genomic Bone Tumor Landscape: A Multicenter Prospective Study.
Frontiers in oncologyA Multimodal Approach to Huge Fibrous Dysplasia With Ocular Symptoms Using a Navigation System and Endoscope.
The Journal of craniofacial surgeryMandibular Osteoma in a Haflinger Mare: Clinical and Pathological Features.
Journal of equine veterinary scienceSkeletal Disease Acquisition in Fibrous Dysplasia: Natural History and Indicators of Lesion Progression in Children.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral ResearchRisk of developing spontaneous MRONJ in fibrous dysplasia patients treated with bisphosphonates: a systematic review of the literature.
Quintessence international (Berlin, Germany : 1985)GNAS mutation analysis assists in differentiating chronic diffuse sclerosing osteomyelitis from fibrous dysplasia in the jaw.
Modern pathology : an official journal of the United States and Canadian Academy of Pathology, IncIntravenous Bisphosphonate Therapy as a Rescue Analgesic in Refractory Fibrous Dysplasia.
Pain medicine (Malden, Mass.)[Early manifestation and progressive multicomponent current of McCune-Albright-Braitsev syndrome in a girl 9 years old: a clinical case and literature review].
Problemy endokrinologiiEffects of zoledronic acid therapy in fibrous dysplasia of bone: a single-center experience.
Archives of endocrinology and metabolismCoexistence of craniopharyngioma and cranial fibrous dysplasia: a case series of clinicopathological study.
Orphanet journal of rare diseasesSecondary Aneurysmal Bone Cyst in Craniofacial Fibrous Dysplasia.
Neurology IndiaNeuropathic-like Pain in Fibrous Dysplasia/McCune-Albright Syndrome.
The Journal of clinical endocrinology and metabolismLong-Term Results of Fibrous Dysplasia of the Paranasal Sinuses.
The Journal of craniofacial surgeryRole of MDM2, CDK4, BCL2, Parafibromin and Galectin 1 in Differentiating Osteosarcoma from its Benign Fibro-osseous Lesions.
Head and neck pathologyRadiolucent Lesions of the Jaws: An Attempted Demonstration of the Use of Co-Word Analysis to List Main Similar Pathologies.
International journal of environmental research and public healthIntramedullary Nailing for Lower Limb Polyostotic Fibrous Dysplasia in Children: A Long-term Follow-up Study.
Journal of pediatric orthopedics[Clinicopathological analysis of 105 patients with fibrous dysplasia of cranio-maxillofacial region].
Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciencesA rare pediatric case of McCune-Albright syndrome with acute visual disturbance: Case report.
MedicineInhibition of IL-6 in the treatment of fibrous dysplasia of bone: The randomized double-blind placebo-controlled TOCIDYS trial.
BoneQuantitative proteomic study reveals differential expression of matricellular proteins between fibrous dysplasia and cemento-ossifying fibroma pathogenesis.
Journal of oral pathology & medicine : official publication of the International Association of Oral Pathologists and the American Academy of Oral PathologyNavigation-guided nasal endoscopic surgery for acute vision loss caused by fibrous dysplasia: a case report and review of literatures.
BMC surgeryClinicopathological and genetic study of a rare occurrence: Malignant transformation of fibrous dysplasia of the jaws.
Molecular genetics & genomic medicineTreatment of fibrous dysplasia: focus on denosumab.
Expert opinion on biological therapyRANKL inhibition halts lesion progression and promotes bone remineralization in mice with fibrous dysplasia.
BoneSuccessful treatment with denosumab for pelvic fibrous dysplasia: A case report and review of the literature.
MedicineFibrous dysplasia animal models: A systematic review.
BoneExtent of Extraskeletal Manifestations of Fibrous Dysplasia/McCune-Albright Syndrome in Patients with Mazabraud's Syndrome.
Calcified tissue internationalMcCune-Albright syndrome - A case report with transmission electron microscopy.
Anais brasileiros de dermatologiaFibrous and Fibro-Osseous Lesions of Bone.
Surgical pathology clinicsBilateral chiasm and optic nerve micro-decompression in a child with extensive cranial fibrous dysplasia: how I do it.
Acta neurochirurgicaLong Bone Fractures in Fibrous Dysplasia/McCune-Albright Syndrome: Prevalence, Natural History, and Risk Factors.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral ResearchCore Extirpation and Zygoma Reduction: A New Surgical Approach for Fibrous Dysplasia of Zygomaticomaxillary Region.
The Journal of craniofacial surgeryMcCune-Albright syndrome, a rare form of precocious puberty: Diagnosis, treatment, and follow-up.
Archivos argentinos de pediatria[DRUG CORRECTION OF THE STRUCTURAL AND FUNCTIONAL STATUS OF BONE TISSUE IN PATIENTS WITH FIBROUS DYSPLASIA].
Georgian medical news68Ga-FAPI-04 PET/CT Imaging for Fibrous Dysplasia of the Bone.
Clinical nuclear medicinePeriorbital inflammation associated with craniofacial fibrous dysplasia: Report of three cases and review of the literature.
Bone[Fibrous dysplasia of the frontal and ethmoid sinuses: a case report].
The Pan African medical journalA CREB1-miR-181a-5p loop regulates the pathophysiologic features of bone marrow stromal cells in fibrous dysplasia of bone.
Molecular medicine (Cambridge, Mass.)Florid cemento-osseous dysplasia: A case report.
Indian journal of dental research : official publication of Indian Society for Dental ResearchMaternal GNAS Contributes to the Extra-Large G Protein α-Subunit (XLαs) Expression in a Cell Type-Specific Manner.
Frontiers in geneticsFlorid Cemento-osseous Dysplasia: A Report of Two Cases and Literature Review.
The journal of contemporary dental practiceAssociações
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- [Florid cemento-osseous dysplasia: A case report].Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences· 2026· PMID 41633608mais citado
- Addressing the unmet challenge of pain in rare bone diseases: new insights from the RUDY UK registry.
- In vitro characterization of osteoblasts from craniofacial fibrous dysplasia of bone and their impact on bone homeostasis.
- Combining cryopreserved autografts and vascularized bone flap for craniofacial defect reconstruction in fibrous dysplasia: a case report.
- Why was the concordance rate of imaging and clinical diagnosis in cemento-osseous dysplasia low? A retrospective study of 55 cases.
- Endoscopic Endonasal Resection of Fibro-Osseous Lesions Involving the Nasal Turbinates: A Report of Two Cases and a Literature Review.
- Anesthetic management of a patient with McCune-Albright syndrome complicated by pathological cervical fracture: a case report.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:249(Orphanet)
- MONDO:0000845(MONDO)
- GARD:6444(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Artigo Wikipedia(Wikipedia)
- Q1410864(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
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