Advancement on the pathogenesis of hereditary multiple exostoses / 中华骨科杂志

Hereditary multiple exostoses (HME) are benign bone tumors characterized by autosomal dominant inheritance, which can cause skeletal malformation in adolescents, seriously affecting the body's aesthetic and motor functions. Currently, there are no guidelines for diagnosing and treating HME, and the main treatment is surgical treatment to remove the tumor and correct the deformity. However, osteochondroma is multiple and difficult to be completely resected. Therefore, more and more scholars are exploring the method of conservative treatment. However, the current understanding of the pathogenesis of HME is limited, and there are no safe and effective drugs in the clinic. Most hypotheses regarding the pathogenesis of HME are based on genetic mutations. Patients with HME may have EXT tumor suppressor gene mutations and function loss caused by secondary mutations such as loss of gene heterozygosity, which ultimately induce abnormal proliferation and differentiation of cartilage in growth plates. Abnormal EXT gene expression causes a decrease in the level of heparan sulphate (HS), leading to abnormalities in multiple molecular pathways that regulate the development and differentiation of growth plate chondrocytes, which together participate in the entire process of HME development and progression. This paper reviews the relevant studies on the pathogenesis of HME in recent years, in order to better understand the pathological process of HME, provide a theoretical basis for the diagnosis and treatment of HME, and also provide ideas for the development of drugs targeting HME.

Exostosis múltiple: variabilidad clínica y factores relacionados a la calidad de vida en niños y en adultos / Osteochondromatosis: clinical variability and factors related to quality of life in children and adults

Introducción. La exostosis múltiple hereditaria es una enfermedad poco frecuente autosómica dominante caracterizada por presencia de múltiples proyecciones óseas. Objetivo. Analizar factores asociados a la calidad de vida relacionada con la salud (CVRS) en niños >2 años y en adultos en seguimiento en un hospital de pediatría de alta complejidad de Argentina. Población y métodos. Estudio transversal de una cohorte en seguimiento. La CVRS se midió con Pediatric Quality of Life Inventory (PedsQL) y Short Form Health Survey (SF-36). Se registró sexo, edad, características sociodemográficas, estatura, radiología, alteración de eje y función de miembros, presencia de dolor y malignización. Se clasificó la gravedad según Pedrini y col. Se realizaron pruebas paramétricas, no paramétricas y análisis de regresión. Resultados. Se incluyeron 66 casos (47 niños y 19 adultos). Relación sexo masculino/femenino: 1,7/1. Mediana de edad: 13,4 años (r: 2,2155,3). Presentaron dolor 30 de 47 niños y 17 de 19 adultos. Si se considera la edad ósea adulta (o cierre epifisario) como punto de corte para definir el estado de adulto, 11 de 37 niños y 18 de 27 adultos presentaron forma grave de enfermedad, y se observó baja estatura en 2 de 38 niños y en 9 de 27 adultos. El valor promedio del componente físico de CVRS en niños fue 65,9 (DE: 22,5) y, en adultos, 27,2 (RIC: 18,5-34,7). La presencia de dolor y la gravedad clínica se asoció significativamente a menor CVRS tanto en niños como en adultos. Conclusiones. En este estudio se observó que el dolor y la gravedad de la enfermedad tuvieron un efecto negativo en la CVRS.

Introduction. Hereditary osteochondromatosis is an uncommon, autosomal, dominant condition characterized by the presence of multiple bone growths. Objective. To analyze factors associated with health-related quality of life (HRQoL) among children > 2 years and adults receiving follow-up at a tertiary care children's hospital in Argentina. Population and methods. Cross-sectional study of a follow-up cohort. HRQoL was measured using the Pediatric Quality of Life Inventory (PedsQL) and the Short Form Health Survey (SF36). Sex, age, sociodemographic characteristics, height, radiology, axis alteration and limb function, presence of pain, and malignant change were recorded. Severity was classified as per Pedrini et al. Parametric and non-parametric tests and regression analysis were done. Results. A total of 66 cases (47 children and 19 adults) were included. Male/female ratio: 1.7/1. Median age: 13.4 years (r: 2.21-55.3). Pain was observed in 30/47 children and in 17/19 adults. Considering the adult bone age (or epiphyseal closure) as the cutoff point to define adult status, 11/37 children and 18/27 adults had a severe disease and 2/38 children and 9/27 adults had short stature. The average value of the physical component of HRQoL in children was 65.9 (SD: 22.5) and, in adults, 27.2 (IQR: 18.534.7). The presence of pain and clinical severity were significantly associated with a lower HRQoL, both in children and adults. Conclusions. This study found that pain and disease severity had a negative effect on HRQoL.

Extra-articular Extra-synovial Solitary Osteochondromatosis of the Ankle

ABSTRACT Synovial chondromatosis or osteochondromatosis is a benign neoplastic condition arising from synovial tissue of joints, tendon sheath and bursa. The commonly involved joints are the knee, hip, shoulder, elbow and ankle. According to the author's knowledge, only four cases have been reported in the English literature, describing the extra-articular synovial chondro-matosis around the ankle joint. The peculiarity of the index case lies in its subtle clinical and radiological presentations which can create a diagnostic dilemma.

Excision of 93 loose bodies of synovial osteochondromatosis in the left ankle: a case report

Primary synovial osteochondromatosis is an uncommon benign joint disorder characterized by the formation of cartilaginous bodies within the synovial of the different joints, tendon sheaths, and bursae. Loose bodies occur in the late stage of the disease. Excision of loose bodies is needed to treat synovial osteochondromatosis. A 20-year-old female patient presented to us with a chief complaint of pain, swelling, and discomfort sensation in the left ankle while walking. Plain X-ray on her left ankle showed loose bodies surrounding the ankle. We performed excision to remove the loose bodies. Histological examination confirmed the diagnosis. The range of motion (ROM) of the ankle increased after surgery. The patient was able to walk more comfortably. Synovial osteochondromatosis is considered benign. In this case, open excision was chosen because the ankle joint is not amenable to arthroscopy. Follow up is needed to detect early recurrence and transformation of malignancy.

Osteocondromatosis múltiple. Caso clínico / Multiple osteochondromatosis. Clinical case / Osteocondromatose múltipla. Caso clínico

RESUMEN Introducción: la osteocondromatosis múltiple hereditaria, entidad autosómica dominante, que se caracteriza por el crecimiento de múltiples tumores benignos llamados osteocondromas. Presentación del caso: paciente femenina de 12 años de edad, que acude a consulta refiriendo dolor constante en rodilla derecha, más acentuado con la marcha. Examen físico SOMA: Aumento de volumen de rodilla derecha hacia sus caras externas e internas con dolor a la palpación, se palpa masa dura, no movible, de bordes irregulares. También se constatan tumoraciones de similares características en ambos hombros y rodillas. Discusión: se le realizan radiografías, observando lesiones óseas en la metáfisis proximal de ambos húmeros a predominio derecho. Exostosis a nivel de metáfisis proximal y distal de ambos fémures, en tibia y peroné bilateral. En rodilla derecha se observa crecimiento hacia la línea media de la tumoración del peroné desplazando en valgo la metáfisis proximal de la tibia. Conclusiones: se plantea una exostosis múltiple como diagnóstico. Se realizó tratamiento quirúrgico escisión tumoral del extremo proximal del peroné de la rodilla derecha y de la cara interna de la metáfisis proximal de la tibia y biopsia que confirmó el diagnóstico.

ABSTRACT Introduction: hereditary multiple osteochondromatosis, an autosomal dominant entity, characterized by the growth of multiple benign tumors called osteochondromas. Case presentation: 12-year-old female patient, who comes to the consultation referring to constant pain in the right knee, more accentuated with the gait. PHYSICAL exam SOMA: Increase of volume of right knee towards their outer and inner faces with pain to palpation, it palps hard mass, not movable, of irregular edges. Tumors of similar characteristics are also found in both shoulders and knees. Discussion: X-rays are performed, observing bone lesions in the proximal metaphysis of both humeruses to right predominance. Exostosis at the level of proximal and distal metaphysis of both femurs, in tibia and bilateral fibula. In the right knee, growth is observed towards the midline of the fibula tumor displacing the proximal metaphysis of the tibia in valgo. Conclusions: Multiple exostosis is raised as a diagnosis. Surgical treatment was performed tumor excision of the proximal end of the fibula of the right knee and the inner face of the proximal metaphysis of the tibia and biopsy that confirmed the diagnosis.

RESUMO Introdução: osteocondromatose múltipla hereditária, uma entidade autossômica dominante, caracterizada pelo crescimento de múltiplos tumores benignos chamados osteochondromas. Apresentação do caso: paciente do sexo feminino de 12 anos, que chega à consulta referindo-se a dores constantes no joelho direito, mais acentuadas com a marcha. Exame FÍSICO SOMA: Aumento do volume do joelho direito em direção aos seus rostos externos e internos com dor à palpação, palpa massa dura, não móvel, de bordas irregulares. Tumores de características semelhantes também são encontrados em ambos os ombros e joelhos. Discussão: São realizados raios-X, observando lesões ósseas na metafise proximal de ambos os úmeros à predominância direita. Exostose ao nível de metafísica proximal e distal de ambos os fêmures, natíbia e fíbula bilateral. No joelho direito, observa-se crescimento para a linha média do tumor de fíbula deslocando a metafísica proximal da tíbia em valgo. Conclusões: A exostose múltipla é levantada como diagnóstico. Foi realizado tratamento cirúrgico excisão tumoral da extremidade proximal da fíbula do joelho direito e da face interna da metafise proximal da tíbia e biópsia que confirmou o diagnóstico.

Surgical treatment of a rare bilateral synovial chondromatosis

Synovial chondromatosis (SC) in the temporomandibular joint (TMJ) is an uncommon entity, mostly when the involvement is bilateral. The authors report a rare case of bilateral SC, with a follow-up of 13 months, and a literature review. A 60-year-old Caucasian woman, with the chief complaint of pain for 6 years in the bilateral pre-auricular region, had a progressive clacking and discomfort on the left side during mouth opening. The panoramic image was suggestive of SC. The bilateral lesion was surgically removed by direct access. Histopathological examination confirmed the clinical diagnosis of bilateral SC. This article shows the importance of a multidisciplinary approach for the early diagnosis and appropriate treatment. Also, it encourages the referral of such cases to professionals with a greater familiarity with this entity.

Clinical Results of Surgical Resection and Histopathological Evaluation of Synovial Chondromatosis in the Shoulder: A Retrospective Study and Literature Review

BACKGROUND: Synovial chondromatosis occurs rarely in the shoulder, and its details remain unclear. The purpose of this study was to clarify the clinical results of surgical resection and the histopathological findings of synovial chondromatosis in the shoulder.METHODS: Ten shoulders with synovial chondromatosis that had been operatively resected were reviewed retrospectively. Osteochondral lesions were present in the glenohumeral joint in six shoulders and in the subacromial space in four shoulders. Two patients had a history of trauma with glenohumeral dislocation without recurrent instability, and the other seven patients (eight shoulders) did not have any traumatic episodes or past illness involving the ipsilateral shoulder girdle. The occurrences of osteochondral lesions, inferior humeral osteophytes, and acromial spurs were assessed on radiographs before resection, just after resection, and at final follow-up. The Constant scores were compared before resection and at final follow-up with Wilcoxon signed-rank tests. Resected lesions were histopathologically differentiated between primary and secondary synovial chondromatosis.RESULTS: Inferior humeral osteophytes were found in five shoulders with synovial chondromatosis in the glenohumeral joint, and all four shoulders with synovial chondromatosis in the subacromial space had acromial spur formation. Osteochondral lesions appeared to have been successfully removed in all shoulders on postoperative radiographs. At the final follow-up, however, one shoulder with secondary synovial chondromatosis in the subacromial space showed recurrence of osteochondral lesions and acromial spur formation. The mean Constant score improved significantly from 53.0 points before resection to 76.0 points at a mean follow-up of 6.0 years (p = 0.002). On histopathological evaluation, one shoulder was diagnosed as having primary synovial chondromatosis, while nine shoulders had secondary synovial chondromatosis.CONCLUSIONS: The present study showed that resection of shoulder osteochondral lesions successfully relieved the clinical symptoms and that primary synovial chondromatosis is less common than secondary synovial chondromatosis in the shoulder. Although most of the present osteochondral lesions were clinically determined to be primary chondromatosis, only one case was histopathologically categorized as primary synovial chondromatosis. These results suggest that histopathological identification is needed to differentiate between primary and secondary synovial chondromatosis.

Estudio clínico y molecular en una familia con osteocondromatosis múltiple / Clinical and molecular study in a family with multiple osteochondromatosis

Resumen: Se presentan dos casos de una familia con diagnóstico de osteocondromatosis múltiple, el cual fue confirmado por estudio molecular con mutación sin sentido en heterocigosis c.1219C>T, (p.Gln407Stop) en el gen EXT1. En el primer caso, en un paciente se presentó deformidad de Madelung como hallazgo infrecuente y en el otro caso, condrosarcoma como complicación temida, resaltando la variación intrafamiliar, por lo que se recomienda la evaluación individual e interdisciplinaria. Además, ante una entidad genética debe brindarse el adecuado y oportuno asesoramiento genético familiar a todos sus integrantes.

Abstract: We present two cases of a family with the diagnosis of multiple osteochondromatosis, which was confirmed by molecular study with nonsense in heterozygosis mutation c.1219C>T, (p.Gln407Stop) in the EXT1 gene. In these cases, the Madelung deformity was presented in one patient as an uncommon finding and chondrosarcoma as a feared complication in the other case, highlighting intrafamilial variation, which is why individual and interdisciplinary evaluation is recommended. In addition, before a genetic entity should provide adequate and timely family genetic counseling to all its members.

Osteocondromatose em gato: relato de caso / Osteochondromatosis in a cat: case report

A osteocondromatose é caracterizada por nódulos únicos ou múltiplos decorrentes de um crescimento ósseo excessivo benigno. É encontrada em cães, gatos, equinos e humanos. Em felinos, tem maior incidência dos dois aos quatro anos de idade. A etiologia em gatos está relacionada ao vírus da leucemia felina, e também já foi encontrada relação com o fibrossarcoma. A manifestação clínica depende do local acometido e do tamanho da lesão. O diagnóstico definitivo é por meio de histopatologia e o prognóstico é desfavorável, pois ocorrem muitas recidivas. Este relato de caso objetiva descrever a apresentação dessa enfermidade em um felino jovem.(AU)

Osteochondromatosis is characterized by single or multiple nodules resulting from benign excessive bone growth. It is found in cats and dogs, horses and humans. In cats, a higher incidence is found in individuals from 2 to 4 years of age. The etiology in cats is related to the virus of feline leukemia, and is also related to fibrosarcoma. The clinical presentation depends on the area affected and the size of the lesion. The definitive diagnosis is by histopathology and the prognosis is poor because many relapses occur. This case report aims to describe the presentation of the disease in a young cat.(AU)

Osteochondroma in a young cat infected by feline leukemia virus / Ostecondroma em um felino jovem infectado pelo vírus da leucemia felina

ABSTRACT: Osteochondromas are primary bone tumors characterized by cartilage-covered bone projections involving single or multiple masses (osteochondromatosis). This study reports the clinical and pathological findings from a young domestic cat with osteochondroma in the humerus. During the clinical evaluation, the animal had pronounced right forelimb musculature atrophy and an increased distal humeral volume. Histopathological examination of the neoplasm revealed a proliferative lesion characterized mostly by endochondral ossification and peripheral foci of proliferating cartilage tissue. Further testing using immunohistochemical staining and polymerase chain reaction revealed the presence of feline leukemia virus antigens in the hematopoietic cells of the bone marrow and FeLV proviral DNA in the peripheral blood lymphocytes. Clinical and pathological findings are consistent with osteochondroma. This neoplasm occurred in an eight-month-old feline with humeral enlargement that had been present since two months old.

RESUMO: O osteocondroma é um tumor ósseo primário que se caracteriza por apresentar uma projeção óssea recoberta por cartilagem que pode ser formado por uma única ou por múltiplas massas (osteocondromatose). O objetivo deste trabalho é descrever os achados clínicos e patológicos de um felino jovem com osteocondroma no úmero. Na avaliação clínica, o felino apresentava atrofia acentuada da musculatura do membro torácico direito além de um aumento de volume em região distal do úmero. No exame histopatológico, observou-se uma lesão proliferativa composta em sua maior parte por ossificação endocondral com focos periféricos de tecido cartilaginoso proliferado. Testes de imuno-histoquímica e reação em cadeia da polimerase revelaram a presença de antígenos de FeLV em células da linhagem hematopoiética da medula óssea e DNA proviral em linfócitos do sangue periférico, respectivamente. Os achados clínicos e patológicos foram consistentes com um osteocondroma em um felino jovem, com oito meses de idade, com lesão em úmero desde os dois meses de idade.

Potential Adjunctive Role of Radiosynovectomy in Primary Synovial Osteochondromatosis of the Knee: A Case Report / 대한핵의학회잡지

Primary synovial osteochondromatosis (PSOC) is a rare but clinically significant cause of morbidity especially in the male population. Surgery is the primary treatment of choice, but the recurrence rate is reported to be high. Moreover, the presence of widespread loose bodies makes it a cumbersome procedure. The complete removal of the disease is tough at times and results in early recurrence. Radiosynovectomy is an established technique for treating various joint arthropathies. The role of radiosynovectomy in case of PSOC has not yet been explored. This case report described the case of a young male with PSOC of the knee joint who was treated with radiosynovectomy for pain relief. The patient reported complete relief from the pain along with significant improvement in joint mobility. The post-therapy three-phase bone scan also validated the reduction in joint inflammation. The patient was taken for surgical removal of the redundant loose bodies after a significant improvement in the pain and reduction in inflammation. Post-therapy radiation fibrosis of the synovium also helped in the en bloc removal of the disease. The role of radiosynovectomy in PSOC needs to be further explored concerning its potential role as an adjuvant to surgical procedures.

Tumor de células gigantes de tibia proximal en osteocondromatosis múltiple / Tumeur à cellules géantes et ostéochondromatose multiple au niveau du tibia proximal / Giant cell tumor of proximal tibia in multiple osteochondromatosis

El evento de dos tumores óseos primarios en estrecha relación es raro. Se presenta el caso de un paciente con tumor óseo de células gigantes al mismo tiempo que osteocondromatosis múltiple en tibia proximal, lo que no ha sido reportado antes en la literatura. Aunque el reporte histopatológico confirma la coexistencia de las dos neoplasias en el mismo segmento anatómico con un componente aneurismático agregado, el reporte de genética no demostró una asociación necesaria entre las dos neoplasias. Se precisa una investigación más extensa para discernir la existencia de un trasfondo genético común(AU)

The event of closely two-primary bone tumors is rare. A case of a patient with bone giant cell tumor while multiple osteochondromatosis in proximal tibia occurs is presented here. It has not been reported before in literature. Although the pathology report confirms the coexistence of the two neoplasms in the same anatomical aneurysmal segment with added component, the report did not demonstrate a necessary genetic association between the two neoplasms. Further investigation is needed to discriminate the existence of a common genetic background(AU)

La survenue d'une tumeur osseuse primaire en étroite relation avec une autre est assez rare. Le cas d'un patient atteint d'une tumeur osseuse à cellules géantes et d'une ostéochondromatose multiple au niveau du tibia proximal est présenté. On n'a jamais rapporté rien de pareil dans la littérature. Quoique le rapport d'histopathologie confirme la localisation de deux néoplasies dans le même segment anatomique, avec un élément anévrismal ajouté, le rapport de génétique n'a pas démontré une relation entre ces deux tumeurs. Il faut une étude plus exhaustive pour déterminer une origine génétique commune(AU)

Cambios metafisiarios de los miembros inferiores originados por osteocondromatosis múltiple hereditaria / Mataphyseal changes of the lower limb caused by multiple hereditary osteochondromatosis

Se realizó un estudio de población, de tipo prospectivo, descriptivo y observacional en pacientes que acudieron a la Unidad de Tumores Óseos y Partes Blandas (UTOPB) del Hospital Universitario “Dr. Manuel Núñez Tovar” entre enero de 2008 y julio de 2010, con el diagnóstico de Osteocondromatosis Múltiple Hereditaria (OMH) que afectaba las articulaciones de las extremidades inferiores; se estudiaron 26 pacientes, equivalentes a 52 extremidades inferiores, con predominio del sexo masculino 1,2:1, las edades de los pacientes comprendían entre los 6 y 15 años, con mayor registro de casos a los 12 años (19,2%). Se cuantificó el número de osteocondromas periarticulares en las articulaciones de cadera, rodilla y tobillo, observando un predominio en la rodilla (48,7%) a expensas de la metáfisis distal del fémur. Se clasificó la afectación funcional de las articulaciones en tres grados (leve, moderada y severa), tomando como referencia el movimiento de flexoextensión, siendo el tobillo la articulación que presento el mayor grado de limitación y la cadera la menos afectada a la presencia de osteocondromas

We conducted a prospective, descriptive and observational population-based study, in patients attending the Unit of Bone and Soft Tissue Tumors (UTOPB) at the Hospital "Dr. Manuel Núñez Tovar" between January 2008 and July 2010, with the diagnosis of Multiple Hereditary Osteochondromatosis (MHO), which affected the joints of the lower extremities, were studied 26 patients, equivalent to 52 lower extremities; with a male predominance 1,2:1, the age of the patients ranged between 6 and 15 years, with highest number of cases at 12 years (19.2%). We quantified the number of periarticular osteochondromas at the hip, knee and ankle, having predominance in the knee (48.7%) at the expense of the distal femur metaphysis. We scored the functional range of the joints in three grades (mild, moderate and severe), with reference to the movement of flexion-extension, the ankle joint had the highest degree of limitation and, the hip was less affected to the presence of osteochondromas

Secondary Chondrosarcoma Arising from Osteochondroma(tosis) / 대한골관절종양학회지

PURPOSE: To analyze clinical, radiological and pathological features as well as clinical outcome after surgical treatment of patients with secondary chondrosarcoma arising from osteochondroma(tosis). MATERIALS AND METHODS: We retrospectively reviewed clinical records, radiographs, pathologic slides of 14 patients. Nine patients were male and five were female. The mean age was 34 years. The mean follow-up period was 54 months. RESULTS: All patients had a history of previous mass since childhood or puberty. Preexisted osteochondroma was single in 3 patients and multiple in 10. Remaining 1 patient had multiple osteochondromatosis with enchondromatosis. MRI clearly provided thickness of cartilage cap, which was over 2 cm except in 2 cases. Chondrosarcoma was grade 1 in all except 1 case, which was grade 2. Wide excision was performed in 10 patients, marginal excision in 3 and amputation in 1. Twelve patients were doing very well without evidence of disease. Among 3 patients with marginal excision, 1 patient had local recurrence and 1 patient died of disease. CONCLUSION: Comprehensive understanding of clinical, radiological and pathological features of secondary chondrosarcoma is warranted for accurate diagnosis. The best result can be expected with early recognition of malignant change of osteohcondroma(tosis) and wide excision.

Condrometaplasia tenosinovial extraarticular / Extra-articular tenosynovitis chondrometaplasia / Chondrométaplasie ténosynoviale extraarticulaire

La condromatosis tenosinovial es una metaplasia idiopática benigna de la membrana sinovial. Se caracteriza por la formación de nódulos cartilaginosos en la membrana sinovial y en la cavidad articular. La localización extraarticular es un hallazgo poco frecuente. Los síntomas predominantes son dolor, inflamación y limitación de los movimientos. Los métodos diagnósticos más efectivos comprenden la radiología, la tomografía computarizada, la resonancia magnética y la ecografía. Se presenta un nuevo caso de condromatosis tenosinovial extraarticular, se incluyen imágenes diagnósticas, se exponen el tratamiento realizado y los resultados histológicos. Además se ofrece una revisión de la literatura médica sobre el tema.

Tenosynovitis chondromatosis is a benign idiopathic metaplasia os sinovial membrane. It is characterized by formation of cartilaginous nodules in synovial membrane and in the articular cavity. Extra-articular location is an infrequent finding. Predominant symptoms are: pain, inflammation and movements limitation. The more effective diagnostic methods include radiology, computed tomography, magnetic resonance and echography. This is a new case of extra-articular tensosynovial chondromatosis where diagnostic images are included, as well as the treatment applied and histological results. Also, a review of medical literature on this subject is offered.

La chondromatose ténosynoviale est une métaplasie idiopatique benigne de la membrane synoviale. Elle est caractérisée par la formation de nodules cartilagineux dans la membrane synoviale et dans la cavité articulaire. Sa localisation extraarticulaire est une anomalie très rare. Les symptômes prédominants sont la douleur, l'inflammation et la limitation des mouvements. Les méthodes diagnostiques les plus effectives comprennent la radiologie, la tomographie informatisée, la résonance magnétique et l'échographie. Un nouveau cas de chondromatose ténosynoviale extraarticulaire, dont les images diagnostiques sont inclues, est présenté; le traitement réalisé et les résultats histologiques sont exposés. Une revision de la littérature médicale est également présentée.

Surgical Treatment of a Large Regrowing Chondrosarcoma in the Upper Thoracic Spine with Osteochondromatosis

A chondrosarcoma of thoracic spine with local recurrence is described in a 40.year.old man having osteochondromatosis. We had performed a subtotal resection of a chondrosarcoma 3.5 years ago. However, the tumor had grown larger than the initial size. The patient showed symptoms of myelopathy. He was treated with a staged posterior spinal fusion and anterior decompression/corpectomy for grossly total removal of the chondrosarcoma. The patient had near.complete resolution of his myelopathy after surgery, immediatly. Follow.up at 6 months revealed no recurrence and the patient had recovered normal muscle power. Even low grade chondrosarcomas have a high recurrence rate and respond poorly to medical treatments such as chemotherapy or radiotherapy, making total surgical resection is the most important treatment. For good therapeutic results, the chondrosarcoma should be performed aggressive total resection.

Osteocondromatose múltipla hereditária com envolvimento costal / Rib involvement in hereditary multiple osteochondromatosis

This is a case report on Hereditary Multiple Osteochondromatosis (HMO) with rib involvement. The authors present aspects of thoracic surface anatomy, and thoracic images (X-rays, computed tomography, magnetic nuclear resonance), as well as the operating procedure.

Osteocondromas: avaliação por imagem das complicações / Imaging of osteochondroma complications

O osteocondroma é a entidade mais comum entre os diversos tumores ósseos conhecidos. Sendo uma lesão com alta capacidade expansiva e em certos casos com crescimento contínuo, pode determinar complicações, principalmente devido à ocupação de espaços que promove. Pode se apresentar de forma solitária ou múltipla, estando esta última relacionada à maior tendência para transformação sarcomatosa, que é a complicação mais temida. O objetivo do presente estudo édemonstrar, por meio de um ensaio iconográfico, as complicações mais comuns causadas pelos osteocondromas, correlacionando seus aspectos clínicos e radiológicos.

Osteochondroma is the most common entity beyond all the known osseous tumors. It is a lesion with a high enlargement capacity and a continuous growing in some cases, and it may determine complications, mainly due to mass effect. It may be present in a solitary or multiple forms, and the last one is related with a higher tendency to sarcomatous transformation, which is the most frightening complication. The purpose of the present study is to demonstrate, through an iconographic assay, the most common complicationscaused by the osteochondromas, making the correlation of its clinical and radiological aspects.

Synovial Osteochondromatosis

We report three patients with synovial osteochondromatosis to highlight that simple removal of loose bodies and limited synovectomy gives symptomatic relief and has low risk of recurrence in the short term

Exostosis múltiple hereditaria y síndrome de Down / Multiple hereditary exostoses and Down's syndrome

Introducción. La exostosis múltiple hereditaria es un trastorno autosómico dominante caracterizada por excrecencias cartilaginosas múltiples, fundamentalmente, en huesos de las extremidades, y en la que se han descrito como asociados el síndrome de Langer Giedion, la leucemia mieloide aguda y la espondilitis anquilosante. Objetivo: describir el caso de un niño de 10 años de edad en el cual coexisten la exostosis múltiple hereditaria y síndrome de Down. Caso clínico. Paciente masculino de 10 años, con edad aparente mayor a la real, braquicefalia, fisuras palpebrales oblicuas, epicanto, puente nasal aplanado, retardo mental, con presencia de tumoraciones de 3 x 2 cm aproximados, localizadas en extremidades, cintura escapular y pélvica, con marcha claudicante y complemento cromosómico de 47, XY, +21. Conclusión. Parece tratarse del primer caso en donde coexisten el síndrome de Down y la exostosis múltiple.

Introduction. Multiple hereditary exostoses is an autosomal dominant disorder characterized by multiple osteochondromas, fundamentally in bones of the extremities, and in which they have been described like the associates the syndrome of Langer Giedion, the acute myeloid leukemia and the ankylosing spondylitis. Objective: to describe the case of 10-year-old boy in which coexist multiple hereditary exostoses and Down's syndrome. Case report. Male patient with greater apparent age to the real one, brachycephaly, up slanting palpebral fissures, low nasal bridge, mental deficiency, and tumors presence of approximate 3 x 2 cm, located in extremities waist scapular and pelvic, with failing march and complement chromosomal of 47, XY, + 21. Conclusion. We report appears to be the first case of Down's syndrome with the coexistence of multiple exostoses.