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.

Osteocondromatosis sinovial de hombro. Una enfermedad poco frecuente / Shoulder synovial osteocondromatosis. A rare disease

RESUMEN La osteocondromatosis sinovial es una condición poco común que se caracteriza por la formación de nódulos cartilaginosos u óseos comúnmente visto en las articulaciones sobretodo en la rodilla, sin embargo en el hombro esta condición es rara. Presentamos un caso clínico de una mujer de 35 años de edad con dolor en hombro izquierdo de larga evolución, tratado de manera conservadora antes de ser referido a un ortopedista. Luego de un diagnostico clínico y radiológico se sometió a tratamiento quirúrgico en la que se realizó un desbridamiento y escisión de los cuerpos condrales con éxito. Palabras claves: Condromatosis sinovial, tratamiento, adulto joven, mujer

ABSTRACTSynovial osteochondromatosis is a rare condition characterized by the formation of cartilage or bone nodules commonly seen in the joints, especially in the knee, however, this condition is rare in the shoulder. We present a clinical case of a 35-year-old woman with a long history of left shoulder pain, treated conservatively before being referred to an orthopedist. After a clinical and radiological diagnosis, she underwent surgical treatment in which a successful debridement and excision of the chondral bodies was performed

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.

Synovial Osteochondromatosis of the Subtalar Joint in an Adolescent Baseball Player / 대한스포츠의학회지

Synovial chondromatosis is an uncommon disorder characterized by cartilaginous proliferation within the synovial membrane of the articular joint. Smaller joints are rarely affected and it may be progressed to osteochondromatosis after ossification or calcification of metaplastic cartilage. It is commonly presented in the third to fourth decade of life, but rarely presented in adolescence. We report a unique case of synovial osteochondromatosis of the subtalar joint in 14-year-old baseball player. Arthroscopic removal of loose body and complete excision of the osteochondral mass with concomitant synovectomy resulted in satisfactory outcome without recurrence at final follow-up.

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)

Quality of Life in Patients with Osteochondromatosis / 대한정형외과학회잡지

PURPOSE: The purpose of this study is to help predict the prognosis of multiple osteochondromatosis patients with the investigation of social function, pain, physical function and quality of life of patients. MATERIALS AND METHODS: Forty-five cases were diagnosed as multiple osteochondromatosis from March 1993 to June 2014. We performed a survey on pain, daily life, school or work life assessment of research and development-36. Forty-five people who responded to the survey completely were enrolled. Variable factors, including physical functioning, role limitations due to physical health, role limitations due to emotional problems, energy/fatigue, emotional well-being, social functioning, pain, and general health state were considered as elements related to quality of life. In addition, we investigated significant factors for multiple osteochondromatosis patients, and analyzed the survey by scoring. Related factors included age (over 18 years and under 18 years), gender, body mass index, operation, joint deformity, recurrence of disease, family history, the number of involved joints and the location of tumor. Statistical analyses were performed using SAS ver. 9.3 (SAS Inc., Cary, NC, USA). p-values of <0.05 were deemed statistically significant. RESULTS: Patients with a family history of multiple osteochondromatosis showed a significantly decreased result of assessment, physical function, vitality of life, social activities, and health state. In addition, there was a tendency of a poor influence in pain, emotional wellbeing, and general health. CONCLUSION: The results suggest that family history is a significant factor influencing and predicting the quality of life. In other words, the developed patients in the household including patients with severe enough for the rest of the family to know have poor prognosis. Through this study multiple osteochondromatosis is a chronic disease having a profound impact on quality of life.

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)

Abordaje ortodóncico preliminar de un paciente con Osteocondromatosis múltiple. Reporte de Caso / Preliminary orthodontic approach of a patient with multiple Osteochondromatosis. Case Report

La osteocondromatosis múltiple es una patología de baja prevalencia, caracterizada por la presencia de lesiones benignas formadas por cartílago hialino maduro ôosteocondromasõ, los que se desarrollan en la metáfisis de los huesos, próximos a las placas de crecimiento. Los problemas clínicos causados por los osteocondromas incluyen malformaciones esqueléticas, acortamiento asimétrico de las extremidades, y el riesgo potencial de transformación maligna a condrosarcoma. Reportamos el caso clínico de un paciente de 17 años de edad, diagnosticado con ésta patología a los 3,5 años de edad. Actualmente, con compromiso de la mayoría de sus articulaciones. El paciente fue derivado a la especialidad de ortodoncia para el manejo de su maloclusión dentaria. El tratamiento ideal por su maloclusion Clase III esqueletal, era ortodóncico-quirúrgico, el cual no se pudo hacer. Se realizó un tratamiento ortodóncico compensatorio que consistió en alinear los dientes realizando extracciones sin modificar sus maxilares, en espera de una cirugía ortognática al término del crecimiento...

Multiple osteochondromatosis is a disease of low prevalence, characterized by the presence of benign lesions consist mature hyaline cartilage ôOsteochondromas ô which develop in the metaphysis of bones near growth plates. Clinical problems caused by osteochondromas include skeletal malformations, asymmetric limb shortening, and the potential for malignant transformation to chondrosarcoma risk. We report a case of a patient of 17 years old, diagnosed with this disease at 3.5 years. Currently, with involvement of most of its joints. The patient was referred to the specialty of orthodontics for managing your dental malocclusion. The ideal treatment for its Class III jaw was orthodontic-surgical, which could not be done. Compensatory orthodontic treatment consisting performing teeth extractions align without changing their jaws awaiting orthognathic surgery at the end of growth was performed...

Osteocondromatosis múltiple hereditaria estudio clínico y terapéutico en el Estado Monagas, Venezuela. 2001 - 2013 / Hereditary multiple osteochondromatosis: Clinical and Therapeutic Study in the Monagas State, Venezuela. 2001 - 2013

Se realizó un estudio prospectivo, descriptivo sobre 196 pacientes con Osteocobdromatosis Múltiple Hereditaria (OMH), que acudieron a la Unidad de Tumores óseos del estado Monagas, Venezuela, entre 2001 al 2013. 29 familias estudiadas con promedio de afectación de 88%. Los motivos de consulta fueron el dolor y la limitación funcional. 186 pacientes tenían afectación en Miembros Inferiores en quienes las lesiones se localizaban alrededor del fémur distal (94%), el valgo era deformidad predominante. La función articular se vio levemente afectada, en especial a nivel de la rodilla y el tobillo. En los Miembros Superiores las deformidades del antebrazo detectadas en 55 pacientes, fueron consideradas en la clasificación de Masada. La excisión simple sola o en combinación con osteotomías, alargamiento o hemiepifisiodesis permitió corregir las deformidades y retrasar la progresión de las mismas. Degeneración maligna se observó en 4 casos. No hubo evidencias de recurrencias ni metástasis en el seguimiento postoperatorio(AU)

It was performed a prospective, descriptive 196 patients with Osteochodromatosis Hereditary Multiple (OMH), who attended the Bone tumors Unit Monagas state, from March 2001 to March 2011. 29 families were studied with an average family affected by 88%. The main complaints were pain and functional limitation. On radiographs, 186 patients had involvement in lower limbs in whom the lesions were located around the distal femur (94%) and valgus as predominant deformity. Joint function was mildly impaired, especially at the level of the knee and ankle. In Upper Limb forearm deformities detected in 55 patients, were considered in the classification of Masada. As for surgical procedures, simple excision alone or in combination with osteotomies or elongation allowed hemiepiphysiodesis correct deformities and slow the progression thereof. Malignant degeneration was observed in 4 cases. There was no evidence of recurrence or metastasis in the postoperative follow-up(AU)

Haga su diagnóstico / Make your diagnosis

El diagnóstico es Osteocondromatosis Multiple Hereditaria

Giant osteochondroma of the parapharyngeal space: a case report

Osteochondroma is a common benign tumor of the axial skeleton, especially in the distal metaphysis of the femur and the proximal metaphysis of the tibia, that can occur on the facial skeleton (albeit rarely). Osteochondroma is differentiated from chondroma, osteochondromatosis and osteoma. Osteochondroma shows an irregular radiopaque lesion and chondromatic area surrounded by the osteoma. When it develops in the long bone, it has a marked tendency to occur at 10 to 20 years of age and ceases with the end of pubertal growth. However, when it develops in the mandibular condyle, it is prevalent in the third decade and continuous to develop. Tumors that develop in the long bone have a predilection for men, but tumors in the mandible have a predilection for women. In osteochondroma of the mandibular condyle, clinical features presented include occlusal changes, facial asymmetry, headaches, pain and joint noise on the temporomandibular joint, mouth opening limitations, and jaw deviation at the involved site. The first choice of treatment for the massive osteochondroma is surgical removal. A 70-year-old female patient with an osteochondroma on her right mandibular condyle visited our clinic. We surgically removed the mass with favorable results. It is presented here along with a review of literature on osteochondroma.

Giant osteochondroma of the parapharyngeal space: a case report

Osteochondroma is a common benign tumor of the axial skeleton, especially in the distal metaphysis of the femur and the proximal metaphysis of the tibia, that can occur on the facial skeleton (albeit rarely). Osteochondroma is differentiated from chondroma, osteochondromatosis and osteoma. Osteochondroma shows an irregular radiopaque lesion and chondromatic area surrounded by the osteoma. When it develops in the long bone, it has a marked tendency to occur at 10 to 20 years of age and ceases with the end of pubertal growth. However, when it develops in the mandibular condyle, it is prevalent in the third decade and continuous to develop. Tumors that develop in the long bone have a predilection for men, but tumors in the mandible have a predilection for women. In osteochondroma of the mandibular condyle, clinical features presented include occlusal changes, facial asymmetry, headaches, pain and joint noise on the temporomandibular joint, mouth opening limitations, and jaw deviation at the involved site. The first choice of treatment for the massive osteochondroma is surgical removal. A 70-year-old female patient with an osteochondroma on her right mandibular condyle visited our clinic. We surgically removed the mass with favorable results. It is presented here along with a review of literature on osteochondroma.

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

Chondrosarcoma Arising from Benign Bone Tumor due to Malignant Transformation / 대한골관절종양학회지

PURPOSE: We analyzed the oncological outcome and prognostic factor of the chondrosarcoma arising from benign bone tumor due to malignant transformation. MATERIALS AND METHODS: From April 1986 to April 2009, 18 cases were considered eligible. We analyzed retrospectively the patient's characteristics and prognostic factors that affect to the local recurrence and distant metastasis. RESULTS: As classified by primary benign bone tumor, 4 cases were solitary osteochondroma, 11 cases were multiple osteochondromatosis and 3 cases were multiple enchondromatosis. The mean follow-up period was 85 months. The 5-year disease free survival rate of 18 patients was 85.9%. Their overall MSTS score was 25.2 (84%). There were local recurrence in 3 cases and no distant metastasis. We found that tumor location and surgical margin affected to the prognosis significantly. CONCLUSION: In secondary chondrosarcoma patients, the prognosis was good relatively and tumor location and surgical margin are important prognosis factor.

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.

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.

Condrossarcoma em paciente com osteocondromatose múltipla: relato de caso e revisão da literatura / Chondrosarcoma in a patient with multiple osteochondromatosis: a case report and review of the literature

Os autores relatam um caso de condrossarcoma em uma paciente de 14 anos portadora de osteocondromatose múltipla, que procurou assistência médica com a queixa de tumoração na coxa esquerda. Cortes tomográficos do membro afetado evidenciaram lesão osteodestrutiva no terço superior do fêmur esquerdo. O diagnóstico foi feito através da revisão da lâmina do serviço de origem da paciente, confirmando o achado de condrossarcoma grau I em lesão condromatosa. Foi realizada desarticulação do colo femoral devido ao extenso comprometimento de grupos musculares, de tecido celular subcutâneo e de pele. A literatura mostra ampla variação nas taxas de transformação maligna das exostoses em pacientes portadores desta doença, sendo esta uma importante complicação nestes pacientes.

The authors report a case of chondrosarcoma in a 14-year-old female patient with multiple osteochondromatosis who has sought medical assistance complaining of a tumor on the left coxa. CT images of the affected limb have demonstrated osteodestructive lesion on the superior third of the left femur. The diagnosis has been made through a review of the biopsy slide from the service of origin of the patient, confirming the finding of a grade I chondrosarcoma in a chondromatous lesion. Disarticulation of the femoral neck was made because of the large extent of the lesion in muscular groups, subcutaneous cellular tissue and skin. The literature shows a wide variation in rates of malignant transformation of exostosis in patients with this disease, and this is a significant complication in patients affected by this disease.

Osteochondroma of the mandibular condyle: a case report