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.

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.

Tumor de células lipóidicas do ovário / Lipoid cell tumor of the ovary

Objetivo do estudo: mostrar a dificuldade de diagnóstico clínico e histológico de um tumor raro do ovário, que acometeu uma jovem de 13 anos, e o tratamento adequado para esse caso. Tipo de estudo: apresentaçäo de um caso de um tumor raro do ovário em uma menina de 13 anos protadora de uma doença óssea denominada encondromatose. Local: ovário. Pacientes: uma paciente de 13 anos. Intervençöes: laparotomia com salpingooforectomia unilateral à esquerda. Medidas e resultados: a paciente, com quadro de metrorragia e dores no baixo ventre, após estudo minucioso para se detectar a origem da massa pélvica, foi submetia a laparotomia, tendo sido realizada salpingooforectomia unilateral à esquerda. Três anos após a cirurgia, a paciente retorna ao ambulatório, assintomática, com catamênios regulares, solicitando anticoncepcional oral, porque havia iniciado atividade sexual. Conclusöes: concluímos que o tumor lipóidicas do ovário é de difícil classificaçäo e diagnóstico, sendo geralmente benigno, e que o tratamento desse tipo de tumor, principalmente em jovens, nas quais devemos nos preocupar em manter mênstruo-reprodutora, é a ooforectoma unilateral

Maffucci's syndrome with frontal lobe astrocytoma.

Maffucci's syndrome is a particularly rare clinical form of mesodermal dysplasia. It consists of angiomatosis, chondromatosis and sometimes dyschromic cutaneous lesions. The syndrome is usually associated with a high incidence of malignancy, originating primarily from mesodermal derivatives. The present case is the second in the literature in which the syndrome is associated with a frontal lobe astrocytoma. This patient and those reported in the literature, suggest the potential involvement of non-mesodermal tumors in the Maffucci's syndrome.