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Journal of Clinical Rheumatology :... Jan 2023Intra-articular osteoid osteoma may simulate arthritis, due to the intra-articular presence of prostaglandin, which leads to synovitis, joint effusion, pain, and high...
Intra-articular osteoid osteoma may simulate arthritis, due to the intra-articular presence of prostaglandin, which leads to synovitis, joint effusion, pain, and high local temperature. Also, intra-articular osteoid osteoma may present with minimum or no cortical thickening. Therefore, a high suspicion is needed for a correct and early diagnosis. Perfusion weighted imaging, such as dynamic contrast-enhanced imaging, can aid in the localization of the tumor nidus, seen as an early arterial-phase focal enhancement after the gadolinium injection, with fast washout, as a result of its hypervascularity.
Topics: Humans; Bone Neoplasms; Osteoma, Osteoid; Tomography, X-Ray Computed; Arthritis; Synovitis
PubMed: 36544255
DOI: 10.1097/RHU.0000000000001934 -
Clinical Rheumatology Jan 2022
Topics: Arthritis; Bone Neoplasms; Elbow; Elbow Joint; Humans; Osteoma, Osteoid
PubMed: 34382109
DOI: 10.1007/s10067-021-05883-5 -
Virchows Archiv : An International... Jan 2020Bone tumours are difficult to diagnose and treat, as they are rare and over 60 different subtypes are recognised. The emergence of next-generation sequencing has partly... (Review)
Review
Bone tumours are difficult to diagnose and treat, as they are rare and over 60 different subtypes are recognised. The emergence of next-generation sequencing has partly elucidated the molecular mechanisms behind these tumours, including the group of bone forming tumours (osteoma, osteoid osteoma, osteoblastoma and osteosarcoma). Increased knowledge on the molecular mechanism could help to identify novel diagnostic markers and/or treatment options. Osteoid osteoma and osteoblastoma are bone forming tumours without malignant potential that have overlapping morphology. They were recently shown to carry FOS and-to a lesser extent-FOSB rearrangements suggesting that these tumours are closely related. The presence of these rearrangements could help discriminate these entities from other lesions with woven bone deposition. Osteosarcoma is a malignant bone forming tumour for which different histological subtypes are recognised. High-grade osteosarcoma is the prototype of a complex karyotype tumour, and extensive research exploring its molecular background has identified phenomena like chromothripsis and kataegis and some recurrent alterations. Due to lack of specificity, this has not led to a valuable novel diagnostic marker so far. Nevertheless, these studies have also pointed towards potential targetable drivers of which the therapeutic merit remains to be further explored.
Topics: Bone Neoplasms; Gene Rearrangement; Genes, p53; Genetic Predisposition to Disease; Humans; Osteoblastoma; Osteoma; Osteoma, Osteoid; Osteosarcoma; Retinoblastoma Protein
PubMed: 31741049
DOI: 10.1007/s00428-019-02683-w -
Modern Pathology : An Official Journal... Apr 2022Osteoma is a benign bone forming tumor predominantly arising on the surface of craniofacial bones. While the vast majority of osteomas develops sporadically, a small...
Osteoma is a benign bone forming tumor predominantly arising on the surface of craniofacial bones. While the vast majority of osteomas develops sporadically, a small subset of cases is associated with Gardner syndrome, a phenotypic variant of familial adenomatous polyposis caused by mutations in the APC gene resulting in aberrant activation of WNT/β-catenin signaling. In a sequencing analysis on a cohort of sporadic, non-syndromal osteomas, we identified hotspot mutations in the CTNNB1 gene (encoding β-catenin) in 22 of 36 cases (61.1%), harbouring allelic frequencies ranging from 0.04 to 0.53, with the known S45P variant representing the most frequent alteration. Based on NanoString multiplex expression profiling performed in a subset of cases, CTNNB1-mutated osteomas segregated in a defined "WNT-cluster", substantiating functionality of CTNNB1 mutations which are associated with β-catenin stabilization. Our findings for the first time convincingly show that osteomas represent genetically-driven neoplasms and provide evidence that aberrant WNT/β-catenin signaling plays a fundamental role in their pathogenesis, in line with the well-known function of WNT/β-catenin in osteogenesis. Our study contributes to a better understanding of the molecular pathogenesis underlying osteoma development and establishes a helpful diagnostic molecular marker for morphologically challenging cases.
Topics: Adenomatous Polyposis Coli Protein; Genes, APC; Humans; Mutation; Osteoma; beta Catenin
PubMed: 34725446
DOI: 10.1038/s41379-021-00956-x -
Retinal Cases & Brief Reports Dec 2023To describe a case of choroidal osteoma with macular involvement in an infant that was treated with transpupillary thermotherapy.
PURPOSE
To describe a case of choroidal osteoma with macular involvement in an infant that was treated with transpupillary thermotherapy.
METHODS
A case report.
RESULTS
An 11-month-old infant presented for retinopathy of prematurity follow up examination and was found to have a three disc-diameter round, orange, subretinal, slightly elevated lesion with well-defined margins in the superior macula of the left eye. B-scan ultrasonography showed a slightly elevated, highly reflective choroidal mass with acoustic shadowing. A diagnosis of choroidal osteoma was made. Six months later, repeat examination under anesthesia (EUA) showed the lesion to be increasing in size and encroaching on the fovea. Given demonstrated growth and the risk of central vision loss, the patient was treated with transpupillary thermotherapy (TTT). Subsequent EUAs, over a period of four months, have shown complete decalcification with no subsequent growth.
CONCLUSION
Choroidal osteomas are benign lesions that can be sight threatening if located in the macula. TTT in this case resulted in complete regression of a sight threatening extrafoveal choroidal osteoma at four month follow up.
PubMed: 38091609
DOI: 10.1097/ICB.0000000000001526 -
Revista de La Facultad de Ciencias... Jun 2024Introducción: El osteoma osteoide es un tumor óseo benigno, que representa el 2-3% de las neoplasias óseas primarias y hasta el 10-12% de los tumores óseos...
Introducción: El osteoma osteoide es un tumor óseo benigno, que representa el 2-3% de las neoplasias óseas primarias y hasta el 10-12% de los tumores óseos benignos. Tiene mayor incidencia en adultos jóvenes, con predominancia masculina. En los últimos años las técnicas de termoablación mínimamente invasivas han sido utilizadas para el tratamiento del osteoma osteoide, como alternativa a la cirugía clásica. En este estudio evaluaremos los resultados y complicaciones de ablación por radiofrecuencia de osteoma osteoide. Materiales y métodos: Se analizó una cohorte de pacientes en forma retrospectiva con diagnóstico de osteoma osteoide tratados con radiofrecuencia en el Hospital Italiano de Buenos Aires desde Enero del año 2014 hasta Diciembre del año 2022. Todos los pacientes fueron evaluados con la Escala Visual Analógica del dolor (EVA) pre y post procedimiento. El éxito técnico del procedimiento fue considerado como el correcto posicionamiento del electrodo de radiofrecuencia en el nido de la lesión, y el éxito clínico primario como ausencia de dolor post procedimiento. Mientras que los pacientes que requirieron de una segunda sesión de radiofrecuencia para controlar los síntomas serán incluidos como éxito clínico secundario. Resultados: Durante el período mencionado se realizaron 61 ablaciones percutáneas de osteoma osteoide. Se incluyeron en el análisis 57 pacientes, 32 fueron hombres y 25 mujeres. La media de dolor medido por EVA pre procedimiento fue 9. Del total de los pacientes, 23 fueron tratados de manera ambulatoria, el resto permanecieron internados durante 24hs. El tiempo medio de seguimiento fue de 21,7 meses (DS8,3). Se realizó biopsia de la lesión durante el procedimiento en 52 pacientes. Se logró el éxito técnico en 57 pacientes (100%), de ellos el éxito clínico primario se logró en 46 pacientes (80,7%). Los 11 pacientes que continuaron con dolor o presentaron recurrencia de los síntomas luego de un período asintomáticos fueron tratados con una segunda sesión de radiofrecuencia, logrando un éxito clínico secundario 94,7%. Un solo paciente presentó complicaciones post procedimiento (1,7%), correspondiente a hematoma en la planta del pie. Conclusión: Podemos concluir que la ablación percutánea por radiofrecuencia de OO guiada por tomografía en manos de expertos, es un procedimiento seguro, de alta efectividad y baja tasa de complicaciones que puede realizarse de manera ambulatoria. Por lo que consideramos que debe ser tenida en cuenta como primera elección para el tratamiento de esta patología.
Topics: Humans; Osteoma, Osteoid; Male; Female; Retrospective Studies; Bone Neoplasms; Adult; Radiofrequency Ablation; Treatment Outcome; Young Adult; Adolescent; Middle Aged; Tertiary Care Centers; Pain Measurement; Child
PubMed: 38941221
DOI: 10.31053/1853.0605.v81.n2.42451 -
Archives of Craniofacial Surgery Feb 2023Osteomas are benign, slow-growing bone tumors that can be classified as central, peripheral, or extraskeletal. Central osteomas arise from the endosteum, peripheral...
BACKGROUND
Osteomas are benign, slow-growing bone tumors that can be classified as central, peripheral, or extraskeletal. Central osteomas arise from the endosteum, peripheral osteomas from the periosteum, and extraskeletal osteomas within the muscle. Frontal peripheral osteomas are mainly encountered in plastic surgery. In this study, we retrospectively analyzed the clinical data of patients with frontal peripheral osteomas.
METHODS
We retrospectively reviewed the medical records of patients who visited our hospital with frontal peripheral osteomas between January 2014 and June 2022. We analyzed the following variables: age, sex, tumor type (sessile or pedunculated), single or multiple, size, history of head trauma, operation, and recurrence.
RESULTS
A total of 39 patients and 41 osteomas were analyzed, of which 29 osteomas (71%) were sessile and 12 osteomas (29%) were pedunculated. The size of the osteomas ranged from 4 to 30 mm, with an average size of 10 mm. The age of patients ranged from 4 to 78 years with a mean age of 52 years. There were seven men (18%) and 32 women (82%), and the man-to-woman ratio was 1:4.6. Two patients (5%) had multiple masses, with two osteomas in each, while only two patients (5%) had a history of head trauma. Twenty-nine patients (74%) underwent ostectomy by a direct approach, and none of the patients experienced recurrence.
CONCLUSION
The epidemiologic data of our study will help plastic surgeons encounter frontal peripheral osteomas in the field to provide proper management for their patients.
PubMed: 36858357
DOI: 10.7181/acfs.2022.01004 -
Foot (Edinburgh, Scotland) Dec 2021Bone tumors and tumor-like lesions (pseudotumors) are not uncommonly encountered as asymptomatic findings on imaging, or as symptomatic lesions clinically. Radiographic... (Review)
Review
Bone tumors and tumor-like lesions (pseudotumors) are not uncommonly encountered as asymptomatic findings on imaging, or as symptomatic lesions clinically. Radiographic imaging is the first diagnostic tool for their management strategy, since the symptoms are commonly non-specific, such as pain, swelling, and redness. Image findings must be analyzed with attention to the specific features such as lesion location, margination, zone of transition, mineralization, size and multifocality, soft tissue component and/or loco-regional extent. Cross-sectional imaging including CT and MRI serve as complementary methods, providing additional information with respect to the lesion characterization, mineralization, extent and involvement of the adjoining soft tissues. Clinical and/or key imaging features aid in limiting the differential diagnostic possibilities and serve as a guide in determining the benignity or malignancy of the tumor as well as to exclude pseudotumors. This article reviews the key imaging features of foot and ankle lesions. Benign bone lesions include simple and aneurysmal bone cysts, lipoma, hemangioma, chondroblastoma, enchondroma, osteoid osteoma, osteoblastoma, and giant cell tumor. Locally aggressive intermediate category lesion includes hemangioendothelioma. Malignant lesions include osteosarcoma, Ewing's sarcoma, chondrosarcoma. Pseudotumors such as fibrous dysplasia, hemophilic pseudotumor, gout and Madura foot are also discussed with illustrative case examples.
Topics: Ankle; Bone Neoplasms; Chondroblastoma; Diagnosis, Differential; Humans; Osteoblastoma; Osteoma, Osteoid
PubMed: 34560430
DOI: 10.1016/j.foot.2021.101845 -
Skeletal Radiology Nov 2020Osteoid osteoma (OO), a small bone tumor relatively common in young subjects, frequently involves the hip. In addition to typical findings, we emphasize unsuspected... (Review)
Review
Osteoid osteoma (OO), a small bone tumor relatively common in young subjects, frequently involves the hip. In addition to typical findings, we emphasize unsuspected clinical and imaging features including painless OO causing limping gait, non-visibility of totally mineralized nidus, absence of hyperostosis or adjacent edema, and recurrence at distance from the initial location. We also discuss the option of medical treatment for some cases of deep hip locations.
Topics: Adolescent; Bone Neoplasms; Humans; Magnetic Resonance Imaging; Male; Neoplasm Recurrence, Local; Osteoma, Osteoid; Tomography, X-Ray Computed
PubMed: 32561955
DOI: 10.1007/s00256-020-03515-8 -
Graefe's Archive For Clinical and... May 2022This study aims to report complications, treatments, and visual prognosis of choroidal osteoma.
PURPOSE
This study aims to report complications, treatments, and visual prognosis of choroidal osteoma.
METHODS
We retrospectively reviewed electronic medical records and multimodal images of 41 patients with choroidal osteoma.
RESULTS
Visually significant complications included choroidal neovascularization (CNV) in 21 (47.7%) eyes and subretinal fluid (SRF) without CNV in 14 (31.8%) eyes. The most common treatment was intravitreal anti-vascular endothelial growth factor (VEGF) injection: 13 (61.9%) eyes with CNV received an average of 6.3 injections, and 6 (42.9%) eyes with SRF but without CNV received 1.8 injections. As the first-line treatment, intravitreal anti-VEGF injection induced complete or partial remission in 93.4% of eyes with CNV and 57.1% of eyes with SRF. The probability of legally low vision estimated at 3 and at 5 years was 29.1% and 34.2%, respectively. The presence of CNV and outer retinal tubulation (ORT) was independent risk factors for vision loss (adjusted odds ratio, 8.08 and 6.94, respectively).
CONCLUSIONS
The development of CNV and ORT was strong risk factors for visual impairment. Due to the frequent recurrence of complications and poor visual prognosis, regular check-ups and appropriate treatment choices are warranted.
Topics: Angiogenesis Inhibitors; Choroidal Neovascularization; Fluorescein Angiography; Humans; Intravitreal Injections; Osteoma; Prognosis; Ranibizumab; Retrospective Studies; Tomography, Optical Coherence; Vascular Endothelial Growth Factor A; Visual Acuity
PubMed: 34762167
DOI: 10.1007/s00417-021-05487-4