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.

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

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.

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.

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.

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.

Use of the Ilizarov external fixator in the treatment of patients with Ollier's disease.

The authors present the results of treatment of 10 patients with Ollier's disease using the Ilizarov technique. The Ilizarov device was used to treat leg length discrepancy and to enhance the conversion of chondroma cartilage into normal mature bone, with no curettage and bone grafting. The mean duration of treatment was 9.4 months. This technique was highly efficient in treating the disease. It led to conversion of the abnormal cartilage into histologically mature bone in all patients. Some complications were seen, such as decreased knee mobility, which required prolonged use of the device. The Ilizarov technique is successful in treating patients with Ollier's disease despite some complications and the difficulty in using the technique.

Condrosarcoma de base de cráneo y enfermedad de Ollier / Chondrosacoma of skull basis and Ollier´s disease

Los condrosarcomas intracraneales son lesiones infrecuentes que pueden presentarse en forma aislada o el contexto de las condromatosis múltiples, como la enfermedad de Ollier y el sindrome de Maffucci. Reportamos el caso clínico de una paciente joven con diagnóstico de enfermedad de Ollier y condrosarcoma de base de cráneo analizando los diagnósticos diferenciales y su tratamiento quirúrgico. (AU)

O uso de fixador externo de Ilizarov no tratamento da doença de Ollier / Use of the Ilizarov external fixator in the treatment of Ollier disease

Os autores apresentam os resultados obtidos no tratamento de dez pacientes com encondromatose múltipla conhecida como doença de Ollier, pelo método de Ilizarov. A distribuiçao dos encondromas foi predominantemente unilateral e acometeu principalmente os ossos dos membros inferiores. O fixador externo, nesses casos, teve finalidade de corrigir as deformidades e a discrepância dos membros com alongamento, além de transformar a cartilagem anormal (condroma) em osso normal, sem a necessidade de curetagem da lesao. O tempo médio de tratamento foi de 9,4 meses. Houve cura da doença com regeneraçao da cartilagem em todos os casos. O método mostrou grande eficiência na cura da doença, pois, com a distraçao, houve a transformaçao da cartilagem com características anatomopatológicas de condroma em osso maduro. Entre as complicaçoes os autores salientam a diminuiçao da mobilidade, principalmente ao nível da articulaçao do joelho, e o longo tempo de tratamento. Concluem que as complicaçoes encontradas nao sao contra-indicaçoes para o método, pois a cura do processo patológico e a correçao das deformidades e das discrepâncias foram obtidas de maneira definitiva.

Maffucci's syndrome associated with a cranial base chondrosarcoma: case report and literature review.

OBJECTIVE AND IMPORTANCE: Our objective was to study the diagnosis and management of this rare condition. A review of the literature concerning chondrosarcomas related to Maffucci's syndrome is reported. Cause and management are discussed. CLINICAL PRESENTATION: We report a case of Maffucci's syndrome associated with a cranial base chondrosarcoma. To our knowledge, only five similar cases have been reported in the literature. The differential diagnosis between Ollier's disease and Maffucci's syndrome and the causes of these conditions are not clear. INTERVENTION: An 18-year-old female patient presented with a giant tumor involving the posterior fossa, clivus, middle fossa, and cavernous sinus. The lesion could be totally removed through a transzygomatic approach. The histological diagnosis was chondrosarcoma. It was confirmed by immunohistochemical studies. There were no postoperative complications. CONCLUSION: Maffucci's syndrome is a rare clinical condition that presents difficulties concerning its diagnosis and management. It is characterized by the presence of multiple enchondromas and cutaneous hemangiomas. Intracranial chondrosarcomas may be associated with this syndrome. Immunohistochemical studies are necessary to differentiate chondrosarcomas from chordomas. The treatment of choice for cranial base chondrosarcomas is total removal of the lesion. Total removal may be very difficult to achieve because of the involvement of neurovascular structures. Alternative therapies, such as proton beam radiosurgery, should be considered. In this case, radical removal of the tumor was possible using a transzygomatic approach. Gross total removal of large cranial base chondrosarcomas is possible, but a longer follow-up period is necessary to ascertain that radical resection was achieved.

Encordromatosis múltiple (enfermedad de Ollier): tratamiento quirúrgico de las deformidades angulares de los miembros inferiores / Multiple enchondromatosis (Ollier's disease): surgical treatment by openningwedge osteotomy for angular defformities of lower limbs, report of a case and review of the literature

La encondromatosis múltiple descrita en 1900 por M. Ollier es un padecimiento caracterizado por alteraciones en el tejido óseo, en donde se encuentran masas ectópicas benignas de cartílago con afección metafisaria de los huesos largos y de los huesos tubulares cortos y con alteración en el crecimiento longitudinal. Presentamos el caso de un paciente del sexo femenino, de 12 años de edad con diagnóstico de encondromatosis múltiple y lesiones en el tercio distal del fémur, trocánter mayor, cabeza del peroné, hueso iliaco derecho y falanges de ambas manos. La lesión de la metáfisis distal del fémur provocaba valgo de la rodilla derecha, de 28 grados, y un acortamiento de la extremidad, de 7.6 cm, que provocaba marcha claudicante, así como dolor. Se le realizó osteotomía femoral de alineación, de apertura con colocación de injerto en bloque, de lo que se obtuvo una lineación del eje en posición neutra, y un aumento de 1.8 cm de la longitud de la extremidad. Como asistencia ulterior para el acortamiento de la extremidad pélvica derecha se indicó un alza de 2 cm al tacón del zapato, y 1 cm a la plantilla, con lo que se mejoró sustancialemente la marcha y el apoyo sin producir dolor