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).

Doble primario sincrónico: condrosarcoma y sarcoma fusocelular de alto grado asociado a síndrome de Maffucci / Synchronous primary double: condrosarcoma and sarcoma high grade fusocelular associated with Maffucci syndrome

Resumen: El síndrome de Maffucci se caracteriza por la presencia de múltiples encondromas y hemangiomas que pueden afectar tejidos blandos y otros órganos. El riesgo de transformación maligna de las lesiones es de 100% durante la vida del individuo, siendo el condrosarcoma el tumor maligno más frecuentemente asociado. Se presenta el caso de un hombre de 44 años de edad con diagnóstico de síndrome de Maffucci, el cual desarrolló un doble primario sincrónico: condrosarcoma y sarcoma fusocelular de alto grado multicéntrico de región escapular y tricipital, fue tratado con desarticulación interescapulotorácica, mostró progresión acelerada y enfermedad pulmonar. Existen otras neoplasias asociadas al síndrome de Maffucci tales como adenocarcinoma de páncreas, tumores mesenquimales de ovario, gliomas, astrocitomas y tumores de la pituitaria. Por lo que resulta muy interesante reportar la asociación infrecuente entre un sarcoma fusocelular y un condrosarcoma secundario en pacientes con síndrome de Maffucci. El seguimiento en este grupo de pacientes es complejo y se basa en la búsqueda intencionada de lesiones con crecimiento acelerado, prestando atención en lesiones de crecimiento progresivo, síntomas clínicos o datos radiológicos de malignidad.

Abstract: Maffucci syndrome is characterized by the presence of multiple enchondromes and hemangiomas that can affect soft tissues and other organs. The risk of malignant transformation of lesions is 100% during the life of the individual, with chondrosarcoma being the most frequently associated malignant tumor. We present the case of a 44-year-old man diagnosed with Maffucci syndrome who developed a synchronous double primary: chondrosarcoma and high-grade multicenter fusocellular sarcoma of scapular and tricipital region, was treated with disarticulation interscapule-thoracic, presented accelerated progression and lung disease. There are other neoplasms associated with Maffucci syndrome, such as pancreatic adenocarcinoma, mesenchymal ovarian tumors, gliomas, astrocytomas and pituitary tumors. It is therefore very interesting to report the uncommon association between fusocellular sarcoma and secondary chondrosarcoma in patients with Maffucci syndrome. Follow-up in this group of patients is complex and is based on the intentional search for accelerated growing lesions, paying attention to progressive growth injuries, clinical symptoms or radiological malignancy data.

Role of Tc-99m MDP Bone Scintigraphy in the evaluation of suspected Chondrosarcoma from OIiier Disease: A rare case repor

@# OIiier disease is a rare nonhereditary disorder characterized by multiple enchondromas in which malignant changes may occur. We report the case of a 15-year-old male with Ollier disease who presented with a large mass in the left upper arm for several months. Radiography revealed hugelytic mass in the proximal half to two-thrids of the left humerus. Bone scan showed irregularly increased tracer uptake in the head to mid shaft of the left humerus that is suggestive of malignant disease. Pathology analysis demonstrated proximal humeral chondrosarcoma, grade 1. In Ollier disease, bone scan may be used for monitoring the lessions with suspicion for malignant transpormation.

Metachondromatosis: Clinical and radiological diagnosis and differential diagnosis / Metacondromatosis: diagnóstico clínico, radiológico y diagnóstico diferencial

The clinical case of a 9-year-old patient derived from Orthopedics to the Institute of Genetics at Universidad Nacional de Colombia due to a longstanding medical history of multiple bony outgrowths that required surgical management without etiologic diagnosis is presented in this paper. A possible diagnosis of metachondromatosis is suggested based on the clinical course, the family history, and the findings of the biopsy and regular growth parameters. On the other hand, differential diagnoses were compared taking into account the most common enchondromatosis type, based on data obtained during physical examination, radiological signs and other variables. This comparison was grounded on the review of existing literature on this type of entities.

En el presente artículo se presenta el caso clínico de una paciente de 9 años de edad remitida al Instituto de Genética de la Universidad Nacional de Colombia desde el servicio de Ortopedia por cuadro clínico de larga data, consistente en múltiples excrecencias óseas que han requerido manejo quirúrgico sin diagnóstico etiológico. Se Plantea la posibilidad de metacondromatosis como diagnóstico, basándose en el curso clínico, la historia familiar, los hallazgos en biopsia y los parámetros normales de crecimiento; también se compararon los diagnósticos diferenciales dentro de las encondromatosis más frecuentes teniendo en cuenta datos tomados del examen físico, signos radiológicos y otras variables, esta comparación se basó en la revisión bibliográfica de la literatura existente actualmente sobre este tipo de entidades.

Sindrome de Maffucci / Maffucci’s syndrome

El síndrome de Maffucci es un raro trastorno congénito de etiología desconocida. Se caracterizapor encondromas, deformidades óseas, hemangiomas y con menor frecuencia linfangiomas. Presentamos un paciente con síndrome de Maffucci y hacemos una revisión de la patología...

Sarcoidosis en pediatría: reporte de 7 casos / Pediatric sarcoidosis: a report of seven cases

La sarcoidosis es una enfermedad granulomatosa crónica de origen no infeccioso que puede comprometer diversos órganos. Su prevalencia es baja, y en Colombia se han reportado casos de manera aislada. Su etiología y fisiopatología aún no se conocen completamente. La presentación clínica y las diferentes manifestaciones de la enfermedad son variables. Cuando su debut se presenta en niños menores de 5 años se denomina sarcoidosis de inicio temprano, mientras que cuando lo hace en niños mayores de 5 años recibe el nombre de sarcoidosis de inicio tardío. En este reporte de caso se presentan 7 pacientes pediátricos, de los cuales 5 correspondieron a sarcoidosis de inicio temprano y 2 a sarcoidosis de inicio tardío. Todos los pacientes tuvieron un diagnóstico tardío de la enfermedad, manifestaciones de varios órganos y sistemas, y recibieron tratamiento inmunosupresor. Cuatro tuvieron curso crónico, 2 remisiones de la enfermedad y 1 recaídas frecuentes. Fue llamativa una asociación poco usual de 2 pacientes con sarcoidosis de inicio temprano quienes adicionalmente presentaron la enfermedad de Ollier.

Sarcoidosis is a chronic granulomatous disease of non-infectious origin which can involve various target organs. Its prevalence is low and there have been only isolated cases reported in Colombia. Its etiology and pathophysiology are not well known. The clinical presentation and signs of the disease vary. When its onset is before five years of age it is recognized as early onset sarcoidosis, while if its onset is after five years of age it is called late onset sarcoidosis. In this case report all patients had a delayed diagnosis and they presented with a multiple organ involvement which required an immunosuppressive treatment. Of the 7 patients, 4 had a chronic course, 2 had remission, and 1 with frequent relapses of the disease. There was an unusual relationship of two patients with early onset disease who additionally presented with Ollier's disease.

Encondromatosis múltiple [Sindrome de Ollier] / Multiple enchondromatosis

Enchondromatosis or Ollier syndrome is defined by the presence of multiple enchondromas with an asymmetrical distribution of low prevalence. Enchondromas are common intra osseous benign cartilage tumors cartilaginous which develop to close proximity growth plate cartilage. Cartilage injuries can be very variable in terms of size, number, location, evolution of enchondroma, age of onset and of diagnosis, requirement for surgery. Clinical problems caused by enchondromas include skeletal malformations, an asymetrics hortening of extremity with limping, and potential risk of malignant change to chondrosarcoma. The condition in which multiple enchondromatosis is associated to soft tissue hemangiomas is known as Maffucci syndrome. So far, both Ollier disease and Maffucci syndrome have occurred only in isolated cases. It has not been established if the disease depends on a single gene or combination of several mutations. The diagnosis is based on clinical and radiological conventional analysis. Histological analysis has a limited role and is used if malignancy is suspected. There is no medical treatment for enchondromatosis. Surgical treatment is recommended only in case of complications. Though, it is difficult to establish a prognosis for Ollier disease, it is found that the early onset forms are usually more severe.

Early-onset Childhood Sarcoidosis with Incidental Multiple Enchondromatosis

The triad of rash, arthritis, and uveitis seems to be characteristic for early-onset childhood sarcoidosis. We describe an interesting case of early-onset childhood sarcoidosis coexisting enchondromatosis, which clinically masquerade as Langerhans cell histiocytosis. A 33 months old girl presented with skin rash, subcutaneous nodules with polyarthritis, and revealed the involvement of lymph nodes as well as spleen during work-up. She also presented with multiple osteolytic lesions which pathologically proven enchondromatosis. Oral prednisone was prescribed at 2 mg/kg/day for 2 months until when subcutaneous nodules and joint swellings almost disappeared, and then slowly tapered over a period of 5 months. We report an unusual case of early-onset childhood sarcoidosis presented with osteolytic bone lesions which were irrelevant to sarcoidosis.

Chondroma of falx: case report of a rare condition

Chondroma is a benign tumor which mostly occurs in extremities but also sometimes in brain. Most intracranial chondromas arise from skull base, but chondroma of falx origin is a rare circumstance. Indeed, the intracranial chondromas rise from falx is mostly in relation with syndromic disorders such as Mafucci's syndrome or Ollier's syndrome. Here, we reported a rare case of falxian intracranial chondroma in a young man who has normal physical examination and no signs of any syndromic disorder. The goal of this paper was to raise awareness about chondromas and suggest that chondroma be ruled out in any patient with masses arising from falx

Maffucci’s Syndrome: report of a case with oral manifestation / Síndrome de Maffucci: relato de caso com manifestação oral

Introduction: Maffucci’s Syndrome is a rare nonhereditary mesodermal dysplasia consisting of multiple haemangioma of the soft tissue and enchondromas, mostly affecting phalanges and long bones. The syndrome can also be associated with a variety of other benign and malignant tumors. Case report: Here we report a case of Maffucci’s Syndrome and haemangioma of lip and palate which is rare in this syndrome. This case report describes an 18 year old boy with multiple nodular soft tissue swellings involving the anterior hard palate and lower labial mucosa and bony abnormalities (enchondromas) involving the lower limb.

Introdução: A Síndrome de Maffucci é uma displasia mesodermal não hereditária rara. Consiste de múltiploshemangiomas de tecido mole e encondromas, a maioria afetando as falanges e os ossos longos. A síndromepode também estar associada a uma variedade de tumores benignos e malignos. Relato de caso: O presente trabalho apresenta um caso de Síndrome de Maffucci e hemangioma de lábio e palato, o que é raro nessa síndrome, descrevendo o caso de um garoto de 18 anos de idade com inchaços nodulares múltiplos de tecido mole envolvendo o palato duro anterior e a mucosa labial inferior, além de anomalias ósseas (encondromas)acometendo um membro inferior.

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.

Clinicopathologic study of Ollier's disease and its chondrosarcomatous transformation / 中华病理学杂志

<p><b>OBJECTIVE</b>To explore the clinicopathologic features of Ollier's disease, its chondrosarcomatous transformation and related differential diagnoses.</p><p><b>METHODS</b>A total of 19 cases of Ollier's disease and 8 control cases of pure multiple enchondroma were investigated by imaging studies including X-ray, CT or MRI, and hematoxylin and eosin stain.</p><p><b>RESULTS</b>Among 19 cases of Ollier's disease, 12 were men and 7 were women with a mean age of 20 years (range, 5-66 years). Ollier's disease involving short tubular bones of extremity were lytic defects with bony expansion, thinning or disappearance of the overlying cortex surrounded by periosteal fibrous tissues. When occurring in the long bones, the disease showed radiolucent columns of dysplastic cartilage that extended from the metaphysis to diaphyseal and created bowing deformation and limb asymmetry. Microscopically, the cartilage present in the small bones of the hands and feet tended to be more hypercellular with more abundant enlarged or binucleated nuclei. The lesion in long bones appeared multicentric, surrounding with a thin rim of bone and calcification. Six cases of Ollier's disease had developed secondary low-grade chondrosarcoma.</p><p><b>CONCLUSIONS</b>Low-grade chondrosarcomatous transformation can occur in dysplastic cartilage of Ollier's disease. The diagnosis of such sarcomatous transformation should be determined by invasion, but not atypicality of the cartilagenous cells. There are certain differences between the secondary chondrosarcoma of Ollier's disease and conventional chondrosarcoma on clinical, radiographical and pathological grounds.</p>

Enfermedad de Ollier: a propósito de un caso / Ollier's disease: a purpose of a acase

Enfermedad de Ollier o encondromatosis múltiple, 1 transtorno infrecuente caracterizado por masas cartilaginosas itraoseas asimétricas, 2 aparecen en la infancia no hereditaria, 3 tiene predominio unilateral principalmente manos y pies, 4 radiológicamente se observan estrías, máximas en metafisis. Existe riesgo de generación sarcomatosa a condrosarcomas (30 por ciento). Se presenta caso; femenina de 6 años con afectación de los cuatro miembros, deformidad, disfuncionalidad y dolor en las manos, limitación de actividades físicas. Se manejo con resección de encondromas en humero proximal, radio distal, F1 anular, F2 de do medio y fèmur distal del lado derecho, igualmente tibia proximal izquierda; evolucionando sin residivas y autolimitaciones de las lesiones.

Maffucci' s syndrome complicated by intracranial chondrosarcoma: two new illustrative cases

Maffucci's syndrome is a rare congenital condition, sometimes misdiagnosed as Ollier's disease, characterized by multiple enchondromas combined with hemangiomas and phlebectasia. Coexisting primary malignancies have been described sporadically. We report two cases of Maffucci's syndrome associated with cranial base chondrosarcoma, emphasizing pathophysiological features and the challenging management of intracranial chondrosarcomas. To the best of our knowledge, only twelve similar cases have been reported in the literature.

Síndrome de Maffucci é uma condição congênita rara, às vezes confundida com a doença de Ollier, caracterizada por encondromas múltiplos associados com hemangiomas e flebectasia. A concomitância com neoplasias primárias tem sido relatada esporadicamente. Nós relatamos dois casos de síndrome de Maffucci associada a condrossarcoma da base do crânio, enfatizando aspectos fisiopatológicos e o manejo desafiador dos condrossarcomas intracranianos. Em revisão da literatura, podemos encontrar o relato de apenas doze casos similares.

Enfermedad de Ollier: reporte de un caso / Ollier's Disease: a case report

La enfermedad de Ollier es una encondromatosis múltiple querepresenta el 3 % de los tumores óseos benignos. Las encodromatosisson tumores cartilaginosos que pueden ensanchar el hueso yproducir la clásica característica de la calcifi cación moteada dentrode las lesiones. Se presenta el caso de un escolar masculino de6 años de edad con presencia de múltiples encondromas en lasextremidades torácicas y pélvicas derechas (húmero- radio y cubito,falanges de la mano, fémur, tibia, peroné, y falanges del pie), quehan producido deformidades angulares, rotacionales y asimetría deextremidades pélvicas, que han sido tratadas con osteotomías yfi jación externa tipo Ilizarow a nivel del defecto tumoral en la Unidadde Ortopedia pediátrica del Hospital del Niño de La Paz-Bolivia.

Ollier’s disease is a multiple enchondromatose which constitutes3% of benign bone tumors. Enchondromatoses can thicken thebone and produce the classical characteristics of the cartilaginoustumors: spotted calcifi cations within the lesion. I present the caseof a six year-old school boy who had multiple enchondromes in theright thoracic and pelvic extremities (humero-radius and cubitus,phalanges of the hand, femur, tibia, fi bula, and phalanges of the foot).that had produced angular, rotational deformities and asymmetry ofthe pelvic extremities which had been treated with osteotomy andexternal fi xation according to IIizarow at the level of the tumorousdefect, in the Unit of Pediatric Orthopedics of the Children’s Hospitalin La Paz, Bolivia.