Imaging of solitary and multiple osteochondromas: From head to toe - A review.

Osteochondromas account for 20%-50% of all benign bone lesions. These tumors may present as solitary non-hereditary lesions, which are the most common presentation, or as multiple tumors associated with hereditary conditions. Plain radiography is the imaging method of choice and demonstrates the typical cortical and medullary continuity of the tumor with the underlying bone. Magnetic resonance imaging is often performed to evaluate cartilage cap thickness, which correlates with malignant transformation. Other local complications include compression of adjacent neurovascular bundles, muscles, and tendons, bursitis, tendon tears, stalk fracture, and angular or rotational long bone deformities. Although the imaging features of osteochondromas are largely known, only a few papers in the literature have focused on their main complications and image-based follow-up. This paper aimed to illustrate the main complications of osteochondromas, suggest an image-based algorithm for management and follow-up and discuss differential diagnosis.

Clinical and Genetic Analysis of Multiple Osteochondromas in A Cohort of Argentine Patients.

Multiple Osteochondromatosis (MO, MIM 133700 & 133701), an autosomal dominant O-glycosylation disorder (EXT1/EXT2-CDG), can be associated with a reduction in skeletal growth, bony deformity, restricted joint motion, shortened stature and pathogenic variants in two tumor suppressor genes, EXT1 and EXT2. In this work, we report a cross-sectional study including 35 index patients and 20 affected family members. Clinical phenotyping of all 55 affected cases was obtained, but genetic studies were performed only in 35 indexes. Of these, a total of 40% (n = 14) had a family history of MO. Clinical severity scores were class I in 34% (n:18), class II in 24.5% (n:13) and class III in 41.5% (n:22). Pathogenic variants were identified in 83% (29/35) probands. We detected 18 (62%) in EXT1 and 11 (38%) in EXT2. Patients with EXT1 variants showed a height z-score of 1.03 SD lower than those with EXT2 variants and greater clinical severity (II-III vs. I). Interestingly, three patients showed intellectual impairment, two patients showed a dual diagnosis, one Turner Syndrome and one hypochondroplasia. This study improves knowledge of MO, reporting new pathogenic variants and forwarding the worldwide collaboration necessary to promote the inclusion of patients into future biologically based therapeutics.

Exostosis múltiple hereditaria presentación de caso / Multiple hereditary exostosis. Case report

RESUMEN La exostosis hereditaria múltiple es un trastorno autosómico dominante que se suele presentar en las dos primeras décadas de la vida. Caracterizada por el remodelado metafisaria alterado y crecimiento óseo asimétrico con acortamiento secundario de los huesos de las extremidades. Estas exostosis óseas rodeadas de cartílagos se hacen prominentes a las partes blandas, se diferencia de la enfermedad de Ollier en que esta última no es hereditaria. Se presentó el caso de una mujer de 36 años, que presentaba acortamiento de los miembros especialmente, cubito y radio, metacarpianos y metatarsianos. Su hijo de 18 años afectado también de dicha enfermedad presentaba una deformidad de Madelung asociada (acortamiento de cubito y radio con arqueamiento del radio) (AU).

ABSTRACT Multiple hereditary exostosis is an autosomal dominant disorder, usually found in the first two decades of life. It is characterized by the altered metaphyseal remodeling and asymmetric bone growth with a secondary shortening of extremities bones. These bone exostoses surrounded by cartilages become prominent to the soft parts, and are different from the Ollier disease because this last one is not hereditary. The authors present the case of a woman, aged 36 years, presenting a shortening of the members, especially ulna and radius, metacarpus and metatarsus. Her 18-years-old son was also affected by this disease, having an associated Madelug deformity (shortening of ulna and radius, and radius bowing) (AU).

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.

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)