É uma lesão fibro-óssea benigna (não cancerosa) que afeta o osso de bebês e crianças, e que geralmente desaparece sozinha. Ela costuma surgir na camada mais externa (córtex) da parte da frente do meio do ososso da canela (tíbia). Os pacientes geralmente apresentam inchaço ou uma curvatura indolor na tíbia. Em alguns casos, foi relatada a evolução para um tipo de tumor chamado adamantinoma.
Introdução
O que você precisa saber de cara
É uma lesão fibro-óssea benigna (não cancerosa) que afeta o osso de bebês e crianças, e que geralmente desaparece sozinha. Ela costuma surgir na camada mais externa (córtex) da parte da frente do meio do ososso da canela (tíbia). Os pacientes geralmente apresentam inchaço ou uma curvatura indolor na tíbia. Em alguns casos, foi relatada a evolução para um tipo de tumor chamado adamantinoma.
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 6 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.
Receptor tyrosine kinase that transduces signals from the extracellular matrix into the cytoplasm by binding to hepatocyte growth factor/HGF ligand. Regulates many physiological processes including proliferation, scattering, morphogenesis and survival. Ligand binding at the cell surface induces autophosphorylation of MET on its intracellular domain that provides docking sites for downstream signaling molecules. Following activation by ligand, interacts with the PI3-kinase subunit PIK3R1, PLCG1,
MembraneSecreted
Variantes genéticas (ClinVar)
418 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 83 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
19 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 osteofibrótica
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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
Pesquisa e ensaios clínicos
1 ensaios clínicos encontrados.
Publicações mais relevantes
A case of solitary bone plasmacytoma to multiple myeloma: a case report.
Solitary bone plasmacytoma of the rib is uncommon but recognized. We report a case presenting with recurrent, predominantly nocturnal chest wall pain. Imaging revealed an expansile lesion on the left ninth rib and initially suggested fibrous/osteofibrous dysplasia. The patient underwent resection of the involved rib segment. Histopathology and immunohistochemistry confirmed solitary bone plasmacytoma. The patient declined the recommended adjuvant radiotherapy. Twenty-one months later, the disease progressed to multiple myeloma.
MEK inhibitor Mirdametinib promotes fracture healing in osteofibrous dysplasia RASopathy.
Osteofibrous dysplasia (OFD) is a skeletal RASopathy presenting with periosteal bone lesions that may progress to fracture and delayed healing (pseudarthrosis). MET gene mutations reducing ubiquitin-mediated protein degradation via loss of the juxtamembrane domain (METΔJMD) were previously identified in OFD patients, resulting in ligand-dependent gain-of-function. The impact of METΔJMD expression on skeletal progenitor cell differentiation and the potential efficacy of targeted therapies remain unclear. We engineered MetΔJMD mice and showed that MetΔJMD expression inhibited osteogenic differentiation of skeletal progenitor cells in vitro and impaired cortical bone development and reduced bone stiffness in vivo. In contrast, conditional deletion of Met enhanced osteogenic differentiation of periosteal progenitor cells. Inhibition of MAPK signaling with MEK inhibitors restored osteogenic differentiation of mouse MetΔJMD skeletal progenitor cells and promoted activation of transcriptional signatures associated with skeletal development and osteoblast differentiation in OFD patient pseudarthrosis-derived primary cells. With this preclinical support, we treated with the MEK inhibitor mirdametinib a pediatric OFD patient suffering from a 3-year history of persistent pseudarthrosis, resulting in fracture union. Our findings demonstrate a bi-directional role for MET in regulating osteogenic differentiation of skeletal progenitor cells and a therapeutic avenue to improve clinical outcomes for this, and potential other, skeletal RASopathies. .
Clinicopathological analysis of osteofibrous dysplasia and adamantinoma: A single institution experience.
Osteofibrous dysplasia (OFD) and adamantinoma are rare primary bone tumors. The present study is a clinico-pathological analysis of OFDs and adamantinomas, highlighting the value of distinguishing these tumors from their mimics and evaluating their proximity. OFDs, adamantinomas, fibrous dysplasias (FDs), and intraosseous synovial sarcomas (SS) of the tibia and fibula, diagnosed from 2012 to 2024 (12 years) were retrieved. Fifty-eight tumors were reviewed, and finally, 19 OFDs and 28 adamantinomas were analyzed. After a review, the diagnosis was modified in 12/58 (20.7%) tumors; with 4 OFDs revised to FDs; 2 FDs to OFDs; 2 intra-osseous SSs to classic adamantinomas; 3 OFD-like adamantinomas to classic adamantinomas, and a single de-differentiated adamantinoma to classic adamantinoma. The median age for OFD (10 years) was lower than that of adamantinoma (25 years). The radiological impression concurred with the histopathological diagnosis in 40% of OFDs and 60% of adamantinomas. Among 28 adamantinomas, there was a single OFD-like adamantinoma, 25 classic adamantinomas, and 2 dedifferentiated adamantinomas. Pan keratin (AE1/AE3) was positive in 18/19 (94.7%) OFDs and 19/20 (95%) adamantinomas. P40 (5/5, 100%) and p63 (6/8, 75%) were useful in the diagnosis of adamantinoma. Most adamantinomas were treated with surgery. None of the OFDs progressed to an adamantinoma during a median follow-up of 51.15 months(range = 4.36 to 97.94 months). Five out of 28 (17.9%) patients with an adamantinoma developed recurrences and 5 (17.9) developed metastases. The most commonly associated patterns with recurrences and metastasis in a classic adamantinoma were spindle and basaloid. The present study constitutes the first and the largest series of OFDs and adamantinomas from our subcontinent. OFD, OFD-like adamantinoma and adamantinoma may display overlapping clinico-radio-pathological profiles, and as such are potentially associated with diagnostic errors. Although there is a morphological continuum between OFD and adamantinoma, we did not observe a disease progression during the limited follow-up. It is crucial to distinguish an OFD and an adamantinoma from their various mimics, given treatment-associated implications. A long-term follow-up is suggested, as recurrences and metastases can occur late during the disease course.
A rare case of supinator syndrome caused by osteofibrous dysplasia of the radius.
We report the case of a 57-year-old male who presented to our emergency room due to progressive paresis of the muscles innervated by the deep branch of the radial nerve in the right forearm. The patient suffered from osteofibrous dysplasia and an x-ray revealed the polyostotic disease had also affected his radius. High resolution ultrasound revealed that an exostosis of the radius had caused compression of the posterior interosseous nerve unusually distally in the supinator tunnel. The patient underwent nerve decompression and recovered full strength in his wrist-, and finger extensors approximately 9 months postoperatively. This case report illustrates a case of a rare disease, i.e. osteofibrous dysplasia of the radius, in conjunction with the first published report of an unusually located nerve compression syndrome, i.e. supinator syndrome, caused by this very disease.
Proximal Ulna Adamantinoma.
Adamantinoma is a rare, malignant tumor that is typically seen in the tibia but has been reported in all long bones. We present the case of a woman who presented as a teenager with a pathologic fracture of the proximal ulna that was initially diagnosed as osteofibrous dysplasia and treated with internal fixation. After the lesion was identified in adulthood as adamantinoma, she was converted to a one-bone forearm procedure as a salvage treatment.
Publicações recentes
Treatment and Management of Osteofibrous Dysplasia Like Adamantinoma - A Single Institution Experience.
A case of solitary bone plasmacytoma to multiple myeloma: a case report.
🥉 Relato de casoMEK inhibitor Mirdametinib promotes fracture healing in osteofibrous dysplasia RASopathy.
Clinicopathological analysis of osteofibrous dysplasia and adamantinoma: A single institution experience.
Motorized Intramedullary Bone Transport Nail for Reconstruction of a Large Diaphyseal Bone Defect after Tumor Resection in a Child-A Case Report.
📚 EuropePMC154 artigos no totalmostrando 100
A case of solitary bone plasmacytoma to multiple myeloma: a case report.
Frontiers in medicineMEK inhibitor Mirdametinib promotes fracture healing in osteofibrous dysplasia RASopathy.
The Journal of clinical investigationClinicopathological analysis of osteofibrous dysplasia and adamantinoma: A single institution experience.
Annals of diagnostic pathologyMotorized Intramedullary Bone Transport Nail for Reconstruction of a Large Diaphyseal Bone Defect after Tumor Resection in a Child-A Case Report.
Children (Basel, Switzerland)A rare case of supinator syndrome caused by osteofibrous dysplasia of the radius.
JPRAS openProximal Ulna Adamantinoma.
Journal of hand surgery global onlineOsteofibrous Dysplasia Involving Both Tibia and Fibula: A Rare Campanacci‑Type Presentation.
Journal of the Belgian Society of RadiologyHistological Dedifferentiation in Recurrent Adamantinoma of the Tibia: A Case Report.
Journal of orthopaedic case reportsOsteofibrous dysplasia, osteofibrous Dysplasia-Like adamantinoma, and adamantinoma: A Single-center retrospective analysis.
Journal of bone oncologyMultiple osteofibrous dysplasia combined with femoral fracture with proximal femur shepherd's crook and femoral pseudojoint formation: case report and literature review.
Frontiers in surgeryOsteofibrous dysplasia (OFD) and adamantinoma: A comprehensive review and updates.
Histology and histopathologySATB2 immunohistochemistry in osteosarcoma: Utility in diagnosis and differentiation from histologic mimics.
Indian journal of pathology & microbiologyPediatric Limb Reconstruction Gone Wrong: Risks of Pursuing Treatment Without Thorough Psychological Evaluation.
Journal of the Pediatric Orthopaedic Society of North AmericaBilateral Total Hip Arthroplasty for Osteofibrous Dysplasia Assisted by CT-Guided 3D Printing: A Case Report.
Clinical case reportsFeasibility 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 TraumatologyOsteofibrous dysplasia of the 8th rib: a case report.
Indian journal of thoracic and cardiovascular surgeryNovel Technique for Biopsying Osteofibrous Dysplasia Using a Vacuum-assisted Bone Harvester: A Case Report.
Journal of orthopaedic case reportsFibrous Dysplasia Involving Cranio-Facial Region Treated with Zolendronic Acid: A Single Institutional Experience and Review of Literature.
Indian journal of otolaryngology and head and neck surgery : official publication of the Association of Otolaryngologists of IndiaA 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 BiologyEvaluation of subperiosteal hemicortical resection and bone grafting to treat tibial osteofibrous dysplasia in children.
Journal of pediatric orthopedics. Part BOsteofibrous Dysplasia of Humerus: An Unusual Presentation of a Rare Lesion.
Journal of hand and microsurgeryRecurrent Adamantinoma With Fibrous Dysplasia-like Feature.
Clinical pathology (Thousand Oaks, Ventura County, Calif.)Congenital tibial pseudarthrosis: A challenge in pediatric radiology.
Radiology case reportsOsteofibrous dysplasia: a narrative review.
Journal of orthopaedic surgery and research[Detection of MDM2 gene amplification by fluorescence in situ hybridization and its diagnostic value in low-grade osteosarcoma].
Zhonghua bing li xue za zhi = Chinese journal of pathologyOsteofibrous dysplasia of the fibula occurring in a middle-aged woman.
Asian journal of surgeryLarge-Scale assessment of ChatGPT's performance in benign and malignant bone tumors imaging report diagnosis and its potential for clinical applications.
Journal of bone oncologyUnusual presentation of adamantinoma with synchronous involvement of entire-lengths of the tibia and fibula in an elderly man: A case report.
International journal of surgery case reports[Osteofibrous dysplasia-like adamantinoma: report of a case].
Zhonghua bing li xue za zhi = Chinese journal of pathologyJuvenile trabecular ossifying fibroma: A case of extensive lesion of the maxilla.
International journal of surgery case reportsPolyostotic Fibrous Dysplasia in a Six-year-Old Boy.
Molecular imaging and radionuclide therapyBone pathology mimicking non-accidental injury in a child - Bewildered by bones, case report and review of the literature.
International journal of surgery case reportsComparison of MRI Findings among Osteofibrous Dysplasia, Fibrous Dysplasia, and NonOssifying Fibroma of the Long Bone.
The Indian journal of radiology & imagingOsteofibrous Dysplasia of the Clavicle Managed with Intravenous Bisphosphonates: A Case Report and Review of Literature.
Journal of orthopaedic case reportsA case of neonatal osteofibrous dysplasia with novel CDK12 and DDR2 mutations.
Bone reportsOsteofibrous dysplasia-like adamantinoma: A case report and literature review.
Frontiers in oncologyNeonatal osteofibrous dysplasia: Synchronous tibial and fibular involvement is common.
BJR case reportsAdamantinoma with a Prominent Spindle Cell Component Mimicking Intraosseous Synovial Sarcoma: Clinicopathological Features of Six Tumors.
International journal of surgical pathologySecondary osteosarcoma associated with osteofibrous dysplasia: a case report.
Skeletal radiologyApproach to Primary Vertebral Tumors in the Light of the 2020 Updated World Health Organization Classification of Bone Tumors.
Turkish neurosurgeryOsteofibrous dysplasia-like adamantinoma of isolated fibula in a child mimicking chronic osteomyelitis with pathological fracture.
Journal of surgical case reportsOsteofibrous dysplasia of the tibia : the importance of deformity in surveillance.
The bone & joint journalOsteofibrous dysplasia: A rare case in 3-day-old female.
Radiology case reportsHemi-tibia allograft and free microvascularized fibula transplant reconstitute the tibia shaft with side to side healing: 7 year follow up of a 14-year-old boy with adamantinoma.
Case reports in plastic surgery & hand surgeryOsteofibrous Dysplasia and Adamantinoma.
Surgical pathology clinicsA simple management of massive bone defect after en-bloc resection of osteofibrous dysplasia of tibial shaft: A case report.
International journal of surgery case reports[Osteofibrous dysplasia-like adamantinoma of bone: a clinicopathological study of five cases].
Zhonghua bing li xue za zhi = Chinese journal of pathologyOsteofibrous dysplasia and adamantinoma: A summary of diagnostic challenges and surgical techniques.
Surgical oncologyAn unusual case of adamantinoma of long bone.
Autopsy & case reportsIncreased uptake of 68Ga-DOTA-FAPI-04 in bones and joints: metastases and beyond.
European journal of nuclear medicine and molecular imagingQuantitative bone SPECT/CT applications for primary bone neoplasms.
Hellenic journal of nuclear medicineDoes the management of osteofibrous dysplasia of the tibia and fibula in children should be tailored to the extent and location of the lesion? A case control study investigating different surgical options.
Orthopaedics & traumatology, surgery & research : OTSROsteofibrous dysplasia-like adamantinoma versus osteofibrous dysplasia in children: A case report of challenging diagnosis.
International journal of surgery case reportsBilateral Symmetric Sporadic Osteofibrous Dysplasia: an Unusual Case.
Indian journal of surgical oncologyFibrous osteodystrophy in a dromedary camel.
Journal of veterinary diagnostic investigation : official publication of the American Association of Veterinary Laboratory Diagnosticians, IncRecurrent adamantinoma of the mandible.
International journal of oral and maxillofacial surgeryHigh SENP3 Expression Promotes Cell Migration, Invasion, and Proliferation by Modulating DNA Methylation of E-Cadherin in Osteosarcoma.
Technology in cancer research & treatmentWhat's New in Pediatric Orthopaedic Tumor Surgery.
Journal of pediatric orthopedicsSurgical Outcome and Oncological Survival of Osteofibrous Dysplasia-Like and Classic Adamantinomas: An International Multicenter Study of 318 Cases.
The Journal of bone and joint surgery. American volume[Tumor-like bony lesions of the skeleton].
Der OrthopadeOsteofibrous dysplasia-like adamantinoma treated via intercalary segmental resection with partial cortex preservation using pedicled vascularized fibula graft: a case report.
World journal of surgical oncologyOutcome of osteofibrous dysplasia-like versus classic adamantinoma of long bones: a single-institution experience.
Journal of orthopaedic surgery and researchKeratinocytic epidermal nevi associated with localized fibro-osseous lesions without hypophosphatemia.
Pediatric dermatologyFibrous dysplasia limited to an ossicle.
Auris, nasus, larynxAdamantinomatous tumors: Long-term follow-up study of 20 patients treated at a single institution.
Journal of surgical oncologyOsteofibrous Dysplasia in a Cockatiel (Nymphicus hollandicus).
Journal of avian medicine and surgerySurgical Outcomes, Complications, and Long-Term Functionality for Free Vascularized Fibula Grafts in the Pediatric Population: A 17-Year Experience and Systematic Review of the Literature.
Journal of reconstructive microsurgeryOsteolytic lesion of the tibial shaft in a young boy.
BMJ case reportsAMPH-1 As A Critical Tumor Suppressor That Inhibits Osteosarcoma Progression.
Cancer management and researchGrowth hormone receptor promotes osteosarcoma cell growth and metastases.
FEBS open bioAdamantinoma filling the medullary space of the tibia: A case report.
Radiology case reportsOsteofibrous Dysplasia of the Tibia in Children: Outcome Without Resection.
Journal of pediatric orthopedicsComprehensive Molecular Characterization of Adamantinoma and OFD-like Adamantinoma Bone Tumors.
The American journal of surgical pathologyOsteofibrous dysplasia arising in the humerus: A case report.
Rare tumorsGiant monostotic osteofibrous dysplasia of the ilium: A case report and review of literature.
World journal of clinical casesExtraperiosteal segmental excision for osteofibrous dysplasia of tibia with reconstruction by liquid nitrogen-treated recycled autograft.
Journal of orthopaedic science : official journal of the Japanese Orthopaedic AssociationAdamantinoma of bone: Long-term follow-up of 46 consecutive patients.
Journal of surgical oncologyPeriostin expression in neoplastic and non-neoplastic diseases of bone and joint.
Clinical sarcoma researchOsteofibrous Dysplasia with Rhabdoid Elements in a 38-Year-Old Man with Spontaneous Regression Over Five Years: A Case Report.
JBJS case connectorOptimal Treatment of Osteofibrous Dysplasia of the Tibia.
Journal of pediatric orthopedicsPaediatric osteofibrous dysplasia-like adamantinoma with classical radiological findings.
BMJ case reportsModified technique for preservation of inferior alveolar nerve during mandibulectomy.
Head & neckBilateral Tibial Osteofibrous Dysplasia on 18F-FDG PET/CT.
Clinical nuclear medicine[Bullous Sweet's syndrome with pulmonary involvement].
Der Hautarzt; Zeitschrift fur Dermatologie, Venerologie, und verwandte GebieteDoes osteofibrous dysplasia progress to adamantinoma and how should they be treated?
The bone & joint journalOsteofibrous Dysplasia Versus Ossifying Fibroma: Semantic Confusion.
Journal of oral and maxillofacial surgery : official journal of the American Association of Oral and Maxillofacial SurgeonsManagement of Large Maxillomandibular Osteofibrous Dysplasia as Part of a Humanitarian Mission.
Journal of oral and maxillofacial surgery : official journal of the American Association of Oral and Maxillofacial SurgeonsLong-term outcome following treatment of Adamantinoma and Osteofibrous dysplasia of long bones.
Orthopaedics & traumatology, surgery & research : OTSR[Osteofibrous dysplasia of metacarpus: a case report].
Zhongguo gu shang = China journal of orthopaedics and traumatologyOsteofibrous dysplasia of clavicle clinically mimicking chronic osteomyelitis.
The Indian journal of radiology & imaging[Tumor-like lesions of bone].
Der RadiologeSclerostin expression in bone tumours and tumour-like lesions.
HistopathologyChondroblastic osteosarcoma secondary to fibrosarcoma: A case report and literature review.
Oncology lettersMutations Preventing Regulated Exon Skipping in MET Cause Osteofibrous Dysplasia.
American journal of human geneticsA rare case of pure primary hemangioma of the scapula: A case report.
Oncology lettersAutologous mesenchymal stem cell (MSCs) transplantation for critical-sized bone defect following a wide excision of osteofibrous dysplasia.
International journal of surgery case reportsOsteofibrous Dysplasia-like Adamantinoma of the Tibia in a 15-Year-Old Girl.
American journal of orthopedics (Belle Mead, N.J.)Bone Transport for Reconstruction in Benign Bone Tumors.
Clinics in orthopedic surgeryOsteofibrous dysplasia-like adamantinoma in a 3-month-old male infant: a case report.
Acta orthopaedica et traumatologica turcicaOsteofibrous Dysplasia managed with Extraperiosteal excision, Autologous free fibular graft and bone graft substitute.
Journal of orthopaedic case reportsAssociações
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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.
- A case of solitary bone plasmacytoma to multiple myeloma: a case report.
- MEK inhibitor Mirdametinib promotes fracture healing in osteofibrous dysplasia RASopathy.
- Clinicopathological analysis of osteofibrous dysplasia and adamantinoma: A single institution experience.
- A rare case of supinator syndrome caused by osteofibrous dysplasia of the radius.
- Proximal Ulna Adamantinoma.
- Treatment and Management of Osteofibrous Dysplasia Like Adamantinoma - A Single Institution Experience.
- Motorized Intramedullary Bone Transport Nail for Reconstruction of a Large Diaphyseal Bone Defect after Tumor Resection in a Child-A Case Report.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:488265(Orphanet)
- OMIM OMIM:607278(OMIM)
- MONDO:0011806(MONDO)
- GARD:10887(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q55783494(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.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
