RESUMO
Abstract Metachondromatosis is a rare autosomal dominant genetic disease with incomplete penetrance that involves abnormal function of the PTPN11 gene. Differentiation between chondrogenic tumors is a challenge for orthopedists. We report a case of a 5 year-old girl with metachondromatosis, a disease that shares attributes with osteochondromas and enchondromas. We found multiple osteochondroma-like lesions with the atypical characteristic of guiding its growth toward the neighboring joint (epyphisis) instead of moving away from it. Furthermore, columnar enchondroma-like lesions were clearly visible in the right distal radius, in the proximal femoral cervix and in the iliac crests. The patient reported that some other tumor had disappeared or downsized with time. This case was debated between a multidisciplinary skeletal dysplasia group. The aforementioned clinical and radiographic findings reinforced the hypothetical diagnosis of metachondromatosis. Definitive diagnosis of metachondromatosisrequiresa combination of clinical, radiographical and histopathological findings. Differential diagnosis between enchondromas, osteochondromas and metachondromatosis is vital due to differences in malignization and natural history. When a patient has multiple enchondromas and osteochondromas with regression of some lesions and atypical radiographical characteristic of the osteochondroma-like lesions pointing toward the epiphysis, metachondromatosis, a rare disease, must be considered. Surgical treatment is reserved for painful lesions Risk of malignization is insignificant and genetic advice must be given due it is an autosomal dominant disease.
Resumo Metacondromatose é uma doença genética autossômica rara com penetração incompleta que envolve função anormal do gene PTPN11. A diferenciação entre tumores condrogênicos é um desafio para os ortopedistas. Relatamos um caso de uma menina de 5 anos com metacondromatose, doença que compartilha atributos com osteocondromas e encondromas. Encontramos múltiplas lesões semelhantes a osteocondromas com a característica atípica de guiar seu crescimento em direção à articulação vizinha (epífise) em vez de se afastar dela. Além disso, as lesões semelhantes a encondromas colunares eram claramente visíveis no raio distal direito, no colo uterino femoral proximal e nas cristas ilíacas. A paciente relatou que algum outro tumor tinha desaparecido ou reduzido com o tempo. Este caso foi debatido entre um grupo multidisciplinar de displasia esquelética. Os achados clínicos e radiográficos acima mencionados reforçam o diagnóstico hipotético da metacondromatose. O diagnóstico definitivo da metacondromatose é uma combinação de achados clínicos, radiográficos e histopatológicos. O diagnóstico diferencial entre encondromas, osteocondromas e metacondromatose é vital devido a diferenças na malignização e na história natural. Quando um paciente tem encondromas múltiplos e osteocondromas com regressão de algumas lesões e característica radiográfica atípica das lesões semelhantes ao osteocondroma apontando para a epífise, a metacondromatose, uma doença rara, deve ser considerada. Tratamento cirúrgico é reservado para lesões dolorosas. O risco de malignização é insignificante e conselhos genéticos devem ser dados por se tratar de uma doença autossômica dominante.
RESUMO
Bone neoplasms or tumors are of great interest for paleopathological studies due to their close relationship with health and survivorship as well as for their epidemiologic and demographic relevance. However, the identification of these lesions in archaeological specimens is very uncommon. The aim of this paper is to report the case of skeleton R5 E#1 from the prehistoric cemetery La Falda, in the Northwest region of Argentina. During the osteopathological analysis of the skeletal series, proliferative lesions in several bones of the skeleton of a 7-10-year-old juvenile were observed (i.e., both scapulae; left clavicle, humerus, and ulna, both os coxae, femora, and fibulae, and right foot bones). Age-at-death estimation, location and distribution pattern, and morphological appearances of the lesions indicated that this juvenile suffered from a neoplastic condition. A comprehensive differential diagnosis was carried out, suggesting that these lesions were compatible with hereditary multiple osteochondromas. However, Ewing's sarcoma was not definitively ruled out as a probable diagnosis. Thus, this work adds new evidence to the existence of neoplastic conditions in the prehistoric populations of the Americas, and it contributes original data to perform a differential diagnosis for multiple proliferative lesions.
Assuntos
Neoplasias Ósseas/história , Neoplasias Ósseas/patologia , Fósseis/patologia , Paleopatologia , Argentina , Criança , Diagnóstico Diferencial , História Antiga , HumanosRESUMO
OBJECTIVE: The purpose of the report is to describe a patient with hereditary osteochondromatosis and spinal cord compression at the thoracic level. CLINICAL FEATURES: An 8-year-old patient with hereditary osteochondromatosis inherited from his father presented paraparesis in the left foot, leading to complete paralysis in both legs. INTERVENTION: In a CT scan, a bony tumor rising from the posterior wall of the T3 body narrowing the spinal canal, and the MRI spinal cord compression at the same level and the hydrosyringomyelic cavity extended to the conus medullaris; with an anterior thoracic approach to T2-T4, the fibro-cartilaginous tumor was removed, and the stabilization was completed with bone graft and a plate. Two months after surgery, the patient recovered strength in both legs. CONCLUSIONS: A detailed family history through examination-guided advanced imaging and biopsy provides useful information for diagnosis and appropriate management of occupative lesions in patients affected with multiple hereditary exostosis.
Assuntos
Exostose Múltipla Hereditária/diagnóstico por imagem , Exostose Múltipla Hereditária/cirurgia , Compressão da Medula Espinal/diagnóstico por imagem , Compressão da Medula Espinal/cirurgia , Vértebras Torácicas/diagnóstico por imagem , Vértebras Torácicas/cirurgia , Criança , Exostose Múltipla Hereditária/complicações , Humanos , Masculino , Compressão da Medula Espinal/etiologia , Tomografia Computadorizada por Raios X/métodosRESUMO
FUNDAMENTO: el osteocondroma es el tumor óseo benigno frecuente en la edad pediátrica y la exostosis múltiple hereditaria en sus variedades, con un patrón de herencia autosómica dominante, con distribución simétrica por casi todo el esqueleto, aunque puede existir distribución asimétrica en dos de los tres genotipos de la enfermedad. OBJETIVO: presentar una familia portadora de exostosis múltiple hereditaria, diagnosticada de forma multidisciplinaria, por aspectos clínicos, radiológicos e histopatológicos. CASO CLINICO: se presenta un caso de una familia con malformaciones músculos esqueléticos. Predominó la estatura baja y las lesiones nodulares duras no dolorosas en brazos, antebrazos, muslos, piernas, costillas y escápulas, con deformidades en regiones proximales y distales en ambos brazos, antebrazos; así como en tercio proximal y distal de las piernas. En las radiografías se observaron lesiones en la diáfisis de los huesos afectados de diferentes aspectos, ovaladas, lobuladas y alargadas, las cuales están bien delimitadas. A todos los pacientes se les realizó exámenes de laboratorio, los cuales fueron normales y recibieron tratamiento quirúrgico con resección de las tumoraciones más prominentes y las que presentaron mayor tendencia a la malignización, como son las de las costillas, escápula, pelvis y hombros. CONCLUSIONES: la exostosis múltiple hereditaria se considera una enfermedad poco frecuente en nuestro medio y el tratamiento de elección es el quirúrgico para mejorar las manifestaciones clínicas.
BACKGROUND: osteochondroma is the most common benign osseous tumor in pediatric age and hereditary multiple exostoses is one of its types with a pattern of dominant autosomal heredity and a symmetrical distribution in almost all the skeleton, although an asymmetrical distribution can appear in two of the three genotypes of the disease. OBJECTVE: to present the case of a family that suffers from hereditary multiple exostoses diagnosed in a multidisciplinary way from clinical, radiological, and histopathological aspects. CLINICAL CASE: the case of a family with muscular-skeletal malformations is presented. Short height predominated, as well as non-painful hard nodular lesions in arms, forearms, thighs, legs, ribs, and scapulas with deformities in proximal and distal areas in both arms and forearms and in the proximal and distal third of the legs. From the radiological point of view, lesions of different aspects (oval, lobate, elongated) and of well-defined appearance were observed in the diaphysis of the affected bones. All the patients underwent laboratory exams, the results of which were normal. The patients underwent surgical treatment with removal of the most prominent tumors and mainly those which presented a greater tendency to become malignant, like rib, scapula, pelvis and shoulder. CONCLUSIONS: hereditary multiple exostoses constitute an infrequent illness in our environment and surgical treatment is the best choice to improve the clinical manifestations.
Assuntos
Humanos , Exostose Múltipla Hereditária/genética , Exostose Múltipla Hereditária/epidemiologiaRESUMO
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.
RESUMO
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.