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Littérature scientifique sur le sujet « Multiple Osteochondromas »

Auteur : Grafiati

Publié le 9 mars 2023

Mis à jour le 10 mars 2023

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Articles de revues sur le sujet "Multiple Osteochondromas"

Sinha, Siddharth, Venkat Iyer et K. Joshi George. « Foramen magnum osteochondroma causing myelopathy in a patient with hereditary multiple exostoses ». Surgical Neurology International 11 (18 septembre 2020) : 296. http://dx.doi.org/10.25259/sni_378_2020.

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Background: Osteochondromas are commonly occurring benign bone tumors which may be either a solitary lesion or occur due to association with hereditary multiple exostoses (HMEs). There have been several reported cases of spinal osteochondromas, but intracranial lesions are rare. Case Description: A 51-year-old male with a history of multiple osteochondromas presented with myelopathy. He had an exostosis arising from the foramen magnum causing compression of the cervical spinal cord that was successfully removed. Genetic testing revealed that he had HMEs. Conclusion: Osteochondromas of the skull are extremely rare. However, parts of the foramen magnum ossify in cartilage and can give rise to an osteochondroma. Here, we present a patient with HMEs who developed cervical myelopathy due to an osteochondroma arising from the foramen magnum. Due to the cartilaginous ossification of the foramen magnum, clinicians should be aware that osteochondromas can occur in this location and potentially give rise to cervical myelopathy.

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Albrecht, Steffen, J. Stewart Crutchfield et Gary K. SeGall. « On spinal osteochondromas ». Journal of Neurosurgery 77, n^o 2 (août 1992) : 247–52. http://dx.doi.org/10.3171/jns.1992.77.2.0247.

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✓ Osteochondromas (or osteocartilaginous exostoses) make up about 30% to 40% of benign bone tumors. Most are solitary lesions but some are multiple, usually with autosomal dominant inheritance. From 1% to 4% of osteochondromas occur in the spine, where they can cause a variety of signs and symptoms, including those of spinal cord or spinal root compression. The authors present five patients with osteochondromas of the spine and review the findings together with those of over 130 cases reported since 1907. The cases were divided into: 1) spinal osteochondromas in patients with multiple osteochondromas, and 2) solitary osteochondromas occurring in the spine. The age (mean ± standard error of the mean) of patients in the first group was 21.6 ± 1.8 years compared to 30.0 ± 2.1 years for those in the second group (p < 0.02). There was a significant male predominance overall (M:F = 2.5:1; p < 0.0005). In both groups, one-half of the lesions involved the cervical spine. Symptoms are caused by pressure on adjacent structures. Spinal cord compression was reported more than twice as frequently in the multiple osteochondroma group as in the single osteochondroma group (77% vs 33%; p < 0.0005). Computerized tomography (CT) is the imaging procedure of choice. In both groups, the majority of surgically treated patients (90% and 88%, respectively) improve, with about three-quarters of the improved patients having no residual disease or only minor deficits.

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Tian, Ye, Wen Yuan, Huajiang Chen et Xiaolong Shen. « Spinal cord compression secondary to a thoracic vertebral osteochondroma ». Journal of Neurosurgery : Spine 15, n^o 3 (septembre 2011) : 252–57. http://dx.doi.org/10.3171/2011.4.spine10484.

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The authors describe a case of spinal cord compression due to an osteochondroma arising from the T-6 vertebral body in a patient with hereditary multiple exostoses. This 16-year-old boy presented with spastic paraparesis. Surgical decompression was followed by resolution of the neurological impairments. Osteochondroma is the most common bone tumor. The distribution of osteochondromas greatly favors the extremities and these lesions rarely arise in the vertebral column. Osteochondromas occur in 2 distinct clinical settings—as solitary or multiple tumors, the latter being often associated with hereditary multiple exostoses. Osteochondromas are more commonly found in the posterior elements of the vertebrae. Intraspinal presentation of these tumors is usually limited to the cervical regions, with few tumors reported in the thoracic vertebrae. Based on the presented case and literature review, the authors conclude that osteochondromas of the thoracic spine that cause myelopathy usually arise from the vertebral body and pedicle. Prompt and systematic radiological investigations are important in planning surgical management. Surgical excision usually yields good results.

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Raggio, Blake S., Samuel Ficenec, Thomas C. Flowers, Claire Lawlor et Kimsey Rodriguez. « Osteochondroma of the Hyoid : First Pediatric Case and Literature Review ». Clinical Pediatrics 57, n^o 3 (21 juillet 2017) : 307–10. http://dx.doi.org/10.1177/0009922817722012.

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Osteochondromas, the most common benign bone tumors, are cartilaginous neoplasms of unknown origin with rare malignant potential. Osteochondromas rarely occur in the head and neck, and diagnosis relies on a combination of clinical, radiological, and histological criteria. Excision is often curative. We describe the first reported case of hyoid osteochondroma in an adolescent male with multiple osteochondroma, discuss its surgical management, and perform a review of the salient literature. Osteochondroma represents a rare diagnosis to include in the differential of any midline neck mass.

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Makhdom, Asim M., Fan Jiang, Reggie C. Hamdy, Thierry E. Benaroch, Martin Lavigne et Neil Saran. « Hip Joint Osteochondroma : Systematic Review of the Literature and Report of Three Further Cases ». Advances in Orthopedics 2014 (2014) : 1–10. http://dx.doi.org/10.1155/2014/180254.

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The aim of this study is to systematically review the literature with regards to surgical treatment of patients with hip joint osteochondromas, and to report our surgical management of three paediatric patients who had femoral neck or acetabular osteochondromas in association with acetabular dysplasia. We performed a systematic review using PubMed and Embase databases for all studies that reported surgical treatments for patients with peritrochanteric or acetabular osteochondroma with or without acetabular dysplasia. We also retrospectively reviewed three patients who were diagnosed with a hip osteochondroma in association with actetabular dysplasia. These patients were known to have hereditary multiple exostoses (HME). The systematic review revealed 21 studies that met our inclusion criteria. All studies were case reports and retrospective in nature and failed to conclude a uniform treatment plan. The three reported cases illustrate successful excision of hip osteochondromas and treatment of acetabular dysplasia. Early excision of hip osteochondromas might prevent acetabular dysplasia in HME patients. Routine radiographic pelvic survey at the time of diagnosis of HME is recommended for early detection of hip osteochondromas and acetabular dysplasia in these children.

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Jones, Kevin B., Virginia Piombo, Charles Searby, Gail Kurriger, Baoli Yang, Florian Grabellus, Peter J. Roughley et al. « A mouse model of osteochondromagenesis from clonal inactivation of Ext1 in chondrocytes ». Proceedings of the National Academy of Sciences 107, n^o 5 (22 décembre 2009) : 2054–59. http://dx.doi.org/10.1073/pnas.0910875107.

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We report a mouse model of multiple osteochondromas (MO), an autosomal dominant disease in humans, also known as multiple hereditary exostoses (MHE or HME) and characterized by the formation of cartilage-capped osseous growths projecting from the metaphyses of endochondral bones. The pathogenesis of these osteochondromas has remained unclear. Mice heterozygous for Ext1 or Ext2, modeling the human genotypes that cause MO, occasionally develop solitary osteochondroma-like structures on ribs [Lin et al. (2000) Dev Biol 224(2):299–311; Stickens et al. (2005) Development 132(22):5055–5068]. Rather than model the germ-line genotype, we modeled the chimeric tissue genotype of somatic loss of heterozygosity (LOH), by conditionally inactivating Ext1 via head-to-head loxP sites and temporally controlled Cre-recombinase in chondrocytes. These mice faithfully recapitulate the human phenotype of multiple metaphyseal osteochondromas. We also confirm homozygous disruption of Ext1 in osteochondroma chondrocytes and their origin in proliferating physeal chondrocytes. These results explain prior modeling failures with the necessity for somatic LOH in a developmentally regulated cell type.

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Oljaca, Ana, Daniela Hirzberger, Marko Bergovec, Kurt Tiesenhausen, Stephan H. Koter, Joerg Friesenbichler, Christian Viertler et Andreas Leithner. « Osteochondroma of the scapula associated with a subclavian artery pseudoaneurysm : Case report ». SAGE Open Medical Case Reports 7 (janvier 2019) : 2050313X1882308. http://dx.doi.org/10.1177/2050313x18823089.

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Osteochondromas rarely induce vascular complications by mechanical compression. We present the case of a subclavian artery pseudoaneursym caused by an osteochondroma of the scapula in a 67-year-old male. The diagnosis was based on a previous history of multiple exostoses, computed tomography and magnetic resonance imaging, as well as the local vascular clinical status of the lesion. Surgical treatment consisted of vascular and orthopaedic intervention. First, the vascular surgeon implanted a bypass of the subclavian artery from the ventral aspect, enabling the orthopaedic surgeon to resect the osteochondroma from the dorsal aspect. The patient recovered with full function. Vascular pseundoaneurysms should be taken into consideration in patients with osteochondromas, especially with a known history of multiple hereditary exostoses.

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Erickson, Lori A., et Carrie Y. Inwards. « Multiple Hereditary Osteochondromas ». Mayo Clinic Proceedings 94, n^o 7 (juillet 2019) : 1388–89. http://dx.doi.org/10.1016/j.mayocp.2019.05.005.

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Ha, Thi Hien, Thi Minh Thi Ha, Mao Nguyen Van, Trong Binh Le, Nghi Thanh Nhan Le, Thao Nguyen Thanh et Dac Hong An Ngo. « Hereditary multiple exostoses : A case report and literature review ». SAGE Open Medical Case Reports 10 (janvier 2022) : 2050313X2211037. http://dx.doi.org/10.1177/2050313x221103732.

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Osteochondroma is the most common bone tumor representing 20%–50% of all benign bone tumors and 10%–15% of all bone tumors. Osteochondroma has similar radiological appearance in both solitary and multiple forms; the latter is an autosomal dominant disorder termed hereditary multiple exostoses. Associated complications of osteochondroma include deformity, fracture, neurovascular compromise, bursa formation, and malignant transformation. Measurement of the cartilage cap thickness is an important index suggesting secondary malignancy of osteochondroma. The upper limit of cap thickness after skeletal maturation is 1.5 cm which can be reliably measured on ultrasound or magnetic resonance imaging. Hereditary multiple exostoses are linked to the mutations of different exostoses genes located on chromosome 8, 11, and 19. We reported cases of two siblings presented with multiple osteochondromas managed by surgical excision. We evaluated their clinical and radiological presentation, genetic correlations and compared with the literature.

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Szilasi, Anna, Zsófia Koltai, Lilla Dénes, Gyula Balka et Míra Mándoki. « In Situ Hybridization of Feline Leukemia Virus in a Case of Osteochondromatosis ». Veterinary Sciences 9, n^o 2 (31 janvier 2022) : 59. http://dx.doi.org/10.3390/vetsci9020059.

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Osteochondromatosis, also known as multiple cartilaginous exostosis, polyostotic osteochondroma, and multiple osteochondromas, comprises one-fifth of all primary bone tumors in cats, with no breed or sex predisposition or hereditary pattern. Unlike in dogs, horses, and humans, it is predominantly seen in young cats (2–4 years old), after the maturation of the skeleton. Although the pathogenesis of osteochondromatosis is not fully understood, it is considered to be related to infection by feline leukemia virus (FeLV) or other retroviruses, such as the feline sarcoma virus. However, the presence of viral particles within tumor lesions has only been demonstrated by electron microscopy. The malignant transformation of osteochondromas, most typically to osteosarcoma or chondrosarcoma, has also been attributed to the viral infection. Here we report the case of osteochondromatosis in a 3.5-year-old male domestic European shorthair cat with concurrent FeLV infection confirmed by polymerase chain reaction. Viral RNA was visualized in representative tissues (spleen, mesenteric lymph node, liver, kidney, lung, brain) and in the osteochondromas with RNAscope in situ hybridization, which supports that FeLV infection may be involved in the pathogenesis of osteochondromatosis.

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Thèses sur le sujet "Multiple Osteochondromas"

VERALDI, NOEMI. « GLYCOSAMINOGLYCANS IN AUTOSOMAL GENETIC DISORDERS : INVESTIGATION ON MULTIPLE HEREDITARY EXOSTOSES AND CYSTIC FIBROSIS ». Doctoral thesis, Università degli Studi di Milano-Bicocca, 2015. http://hdl.handle.net/10281/70780.

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E’ noto da tempo l’importante ruolo biologico svolto dai glicosamminoglicani (GAGs), polisaccaridi in grado di interagire con una serie di fattori di crescita, citochine e componenti della matrice extracellulare modulandone l’attività, e in grado di partecipare alle principali fasi del processo di infezione batterica. Il progetto di dottorato si è incentrato sul ruolo dei GAGs in due patologie genetiche, una autosomica dominante e una autosomica recessiva, rispettivamente: Osteocondromi Multipli (OM) e Fibrosi Cistica (FC). Gli OM sono escrescenze ossee ricoperte da cartilagine che si formano in più punti dello scheletro a causa dell’errata regolazione del processo di ossificazione durante lo sviluppo causato da mutazioni nei geni EXT che codificano per glicosiltransferasi coinvolte nella biosintesi del GAG eparansolfato (HS), responsabile del corretto signaling durante l’osteogenesi. In letteratura sono riportate numerose indagini su cartilagine affetta da OM, ma nessuno studio strutturale sull’HS proveniente da tale cartilagine ed è dunque assente una correlazione genotipo-fenotipica. Il progetto di ricerca si è focalizzato sulla caratterizzazione strutturale dell’HS isolato sia da cartilagine umana sana proveniente da pazienti di diversa età, dallo stadio fetale a quello adulto, che da cartilagine patologica. La correlazione delle mutazioni nei geni EXT con la struttura dell’HS aiuterà ad individuare possibili biomarkers della malattia e della progressione maligna e fornirà indicazioni su una possibile terapia. 14 excisioni cartilaginee da individui sani, di cui 6 fetali, e 10 campioni patologici sono stati analizzati per il contenuto in HS. L’identificazione delle specie presenti ed i controlli delle fasi del lavoro sono avvenuti mediante spettroscopia NMR, che ha permesso di individuare tracce di HS in alcuni campioni. La caratterizzazione strutturale dell’HS è avvenuta tramite depolimerizzazione con enzimi specifici ed analisi HPLC-MS dei prodotti di digestione ed ha permesso di rilevare differenze composizionali nei diversi campioni analizzati. La FC è caratterizzata da mutazioni nel canale di trasporto del cloro CFTR, che causano scorretta traslocazione degli ioni cloro con conseguente accumulo di muco viscoso all’esterno delle cellule epiteliali polmonari, infiammazione persistente e infezione batterica cronica, portando infine a numerosi scompensi a livello sistemico. Due aspetti sono stati investigati: due serie di polisaccaridi, provenienti da modificazione chimica del GAG eparina (HEP), sono stati generati alla ricerca di composti con attività anti-infiammatoria, dapprima in vitro ed in seguito in vivo in un modello di infezione cronica indotta. La modificazione chimica dell’eparina ha comportato riduzione dell’attività anticoagulante e acquisizione di proprietà anti-infiammatorie, quali la capacità di inibire l’azione dell’elastasi e di interagire con interleuchina-8 e TNF-alfa, in vitro, e la diminuzione del numero di cellule totali e di TGF-beta nei lavaggi broncoalveolari in vivo, dimostrando così capacità di modulazione della risposta infiammatoria. Inoltre, si è valutata la modulazione dei GAGs in omogenati polmonari murini in presenza di infezione indotta da P.aeruginosa, uno dei principali patogeni rinvenuti nei polmoni di pazienti affetti dalla malattia, tramite isolamento e caratterizzazione dei GAGs presenti.

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Piombo, Virginia [Verfasser]. « Analysis of heparan sulfate role in bone development and multiple Osteochondromas syndrome. / vorgelegt von Virginia Piombo ». 2010. http://d-nb.info/1010776584/34.

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Chapitres de livres sur le sujet "Multiple Osteochondromas"

Sim, Franklin H. « Osteochondroma and Hereditary Multiple Osteochondromas ». Dans Bone Tumors, 47–55. London : Springer London, 2021. http://dx.doi.org/10.1007/978-1-4471-7501-8_6.

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Cheng, Xiaoguang, Yongbin Su et Mingqian Huang. « Multiple Osteochondromas : Case 4 ». Dans Imaging of Bone Tumors in Shoulder and Elbow, 21–24. Singapore : Springer Singapore, 2021. http://dx.doi.org/10.1007/978-981-33-6150-8_4.

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Oette, Mark, Marvin J. Stone, Hendrik P. N. Scholl, Peter Charbel Issa, Monika Fleckenstein, Steffen Schmitz-Valckenberg, Frank G. Holz et al. « Multiple Osteochondroma ». Dans Encyclopedia of Molecular Mechanisms of Disease, 1373. Berlin, Heidelberg : Springer Berlin Heidelberg, 2009. http://dx.doi.org/10.1007/978-3-540-29676-8_8744.

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Suresh, Krishna V., et Paul D. Sponseller. « Osteochondroma and Multiple Hereditary Exostosis ». Dans Essentials of Spine Surgery, 201–5. Cham : Springer International Publishing, 2022. http://dx.doi.org/10.1007/978-3-030-80356-8_34.

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Haase, H. P., H. G. Willert, A. Enderle, J. Masar et K. Weber. « Osteochondrosis dissecans bei multipler epiphysärer Dysplasie ». Dans Osteologie aktuell VIII, 599–602. Berlin, Heidelberg : Springer Berlin Heidelberg, 1994. http://dx.doi.org/10.1007/978-3-642-78676-1_124.

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Mazabraud, André. « Osteogenic exostosis (osteochondroma), multiple exostoses, subungual exostosis, metachondromatosis ». Dans Pathology of bone tumours, 63–75. Berlin, Heidelberg : Springer Berlin Heidelberg, 1998. http://dx.doi.org/10.1007/978-3-642-95839-7_6.

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Falliner, A. « Der Wert der Knochenszintigraphie bei solitären und multiplen Osteochondromen ». Dans Nuklearmedizin in der Orthopädie, 265–72. Berlin, Heidelberg : Springer Berlin Heidelberg, 1990. http://dx.doi.org/10.1007/978-3-642-74810-3_22.

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« Multiple Osteochondromas ». Dans Encyclopedia of Cancer, 2404. Berlin, Heidelberg : Springer Berlin Heidelberg, 2011. http://dx.doi.org/10.1007/978-3-642-16483-5_3899.

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Liu, Dongyou. « Hereditary Multiple Osteochondromas ». Dans Handbook of Tumor Syndromes, 353–57. CRC Press, 2020. http://dx.doi.org/10.1201/9781351187435-41.

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Levine, Benjamin D., et Leanne L. Seeger. « Malignant Chondroid Matrix Bone Tumors ». Dans Musculoskeletal Imaging Volume 1, sous la direction de Imran M. Omar, 268–74. Oxford University Press, 2019. http://dx.doi.org/10.1093/med/9780190938161.003.0055.

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Chapter 55 discusses malignant chondroid matrix bone tumors. Chondrosarcoma is a malignant bone tumor of cartilage origin. It represents the third most common primary malignant bone tumor, after multiple myeloma and osteosarcoma. Conventional intramedullary chondrosarcoma is its most common subtype, with rarer subtypes that include clear cell, mesenchymal, dedifferentiated, and periosteal chondrosarcoma. Secondary chondrosarcoma represents a lesion that arises in a preexisting benign chondroid lesion (enchondroma or osteochondroma). Chondrosarcomas demonstrate some specific imaging features that can improve diagnostic accuracy and help guide clinical management. Histological grade of central chondrosarcoma usually dictates surgical management. As with other sarcomas, outcome of chondrosarcoma depends on histological grade, surgical margins, and staging.

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Actes de conférences sur le sujet "Multiple Osteochondromas"

Cordeiro, Glaucia Mesquita, Katrine Evelen Carole Silva Sousa Cançado, Nilo Antunes Souza Filho, Jessica Mendes Costa Freitas Santos et José Pereira Guara. « HEREDITARY MULTIPLE EXOSTOSIS : THE ROLE OF THE MASTOLOGIST IN AN INTERDISCIPLINARY APPROACH ». Dans Scientifc papers of XXIII Brazilian Breast Congress - 2021. Mastology, 2021. http://dx.doi.org/10.29289/259453942021v31s1072.

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Introduction: Hereditary Multiple Exostosis (HME) is a disorder of the bone metaphysis, transmitted in an autosomal dominant manner, which is genetically heterogeneous and has incomplete penetration in females, characterized by the presence of multiple exostoses (osteochondromas). It can lead to anatomical and functional impairments for the patient that will remain throughout his life, requiring periodic screening of the lesions to identify and treat them early. Although it can be asymptomatic, a wide spectrum of clinical manifestations are found in pediatric patients with this disorder; the therapeutic approach is substantially surgical, while the clinic is still on an experimental level. The questionable pathophysiological aspects of HME remain a subject of study and controversy in the conduct of therapy and treatment. The diagnosis requires regular screening of the lesions through imaging tests, as well as clinical findings such as: pain, which is the main surgical indication; limitation of movement (for example, forearm rotation may be limited by exostoses between the radius and ulna or maximum knee flexion may be limited by exostosis in the popliteal region) and growth disorders. In this work, we will present a case of osteochondroma in rib with invasion of the left breast in a patient with HME, while emphasizing the role of mastology to prevent compromises and preserve breast aesthetics. Case report: A 14-year-old patient, seen at a tertiary hospital in São Luís, with complaints of pain and hardened tumor lesion in the left breast, diagnosed with osteochondroma. The treatment required the performance of a team composed of a thoracic surgeon and a mastologist to obtain results without functional and aesthetic compromise for the patient. The patient had as main complaint the limitation of movement, dyspnea and pain in the region of the lesion. She underwent a surgical procedure that consisted of an incision through the infra-mammary fold, detachment of the gland by the subfascial plane, opening of the pectoralis major muscle, approach of the rib and resection of the lesion without opening the pleura by the thoracic surgeon. The reconstruction of the breast defect was made with local flaps and closed by planes maintaining an adequate cosmetic and functional breast result. In clinical evaluation after the procedure, she had no complaints and no apparent lesions on CT scan. Malignancy of the disease is an important and feared complication, although tumors usually present with low grade, there are clinical signs of malignancy that should be monitored in these patients, such as the growth of exostosis after bone maturity, neuropraxia and symptoms associated with organ pressure close to injuries.

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