RESUMO
Maffucci syndrome is a rare, congenital disease, which is associated with the appearance of multiple enchondromas (possibility of malignant transformation in 20 to 100%), soft tissue hemangiomas and other mesenchymatous injuries. Case 1 is a 33-year-old female who presented with multiple nodules predominantly in upper extremities. Upon examination, there was deformity in articulation and nodules on the hands, which were soft and moveable. There were bony shavings in the second and fourth fingers of the left hand (enchondromas and atypical cells associated with hemangioma esclerosante). Maffucci syndrome was diagnosed. Later, excision of subcutaneous nodules in superior extremities was performed along with excision of nodules in both hands and hypochondrium (enchondroma injuries of left hand and hypochondrium, hemangioma in right hand). There was dysarticulation of the second finger at the metacarpal level of the phalanges of the left hand (chondrosarcoma). The patient is being followed up currently. Case 2 is a 26-year-old female. The patient had a history of subcutaneous abdominal tumor, exostosis, nodules and nodule in right breast. Upon examination, a tumor was found in the right breast, exostosis of right tibia, injury to the right wrist and left thyroid nodule. A simple mastectomy and axillary dissection was performed (fibroadenoma to intracanalicular and 14 negative lymph nodes). Later, left thyroidectomy and lumpectomy in right wrist were performed (hyperplasia to nodular thyroid and hemangioma cavernous). There was injury in the carpus of the right hand and elbow (hemangioma cavernous and synovial tissue with fibrosis and enchondroma). A diagnosis was made of Marffucci syndrome associated with mesenchymatous tumors. The patient was in poor general health and did not survive this hospitalization.
Assuntos
Encondromatose , Adulto , Neoplasias Ósseas/diagnóstico por imagem , Neoplasias Ósseas/etiologia , Condrossarcoma/diagnóstico por imagem , Condrossarcoma/etiologia , Encondromatose/complicações , Encondromatose/diagnóstico , Encondromatose/diagnóstico por imagem , Encondromatose/mortalidade , Feminino , Humanos , Prognóstico , Tomografia Computadorizada por Raios XRESUMO
Se presenta el caso de una paciente, del sexo femenino, con un condrosarcoma sinovial derivado de una transformación maligna de condromatosis sinovial. Se discuten los hallazgos en imágenes e histológicos. Se revisan y comentan los casos previamente publicados.
Assuntos
Humanos , Adulto , Feminino , Condrossarcoma/cirurgia , Condrossarcoma/diagnóstico , Condrossarcoma/etiologia , Condrossarcoma/terapia , Articulação do Joelho , Neoplasias Ósseas , Condromatose Sinovial/cirurgia , Espectroscopia de Ressonância MagnéticaRESUMO
The authors report on the case of a 28-year-old patient with extensive chondrosarcoma of the left ischium and pubis involving hip joint, skin, and soft tissue of the gluteal region, secondary to hereditary multiple exostosis submitted to an extended internal. Enneking type II and III hemipelvectomy. No prosthesis or arthrodesis was used. A few years ago, patients with extensive tumors like this one were treated with interilioabdominal amputation, resulting in a loss of quality of life. Two years after the limb-preserving surgery, this patient was disease free, with good functional results, including bipedal ambulation with support.
Assuntos
Adulto , Masculino , Humanos , Neoplasias Ósseas/cirurgia , Exostose Múltipla Hereditária/complicações , Condrossarcoma/cirurgia , Hemipelvectomia , Neoplasias Ósseas/etiologia , Condrossarcoma/etiologiaRESUMO
The authors report on the case of a 28-year-old patient with extensive chondrosarcoma of the left ischium and pubis involving hip joint, skin, and soft tissue of the gluteal region, secondary to hereditary multiple exostosis submitted to an extended internal Enneking type II and III hemipelvectomy. No prosthesis or arthrodesis was used. A few years ago, patients with extensive tumors like this one were treated with interilioabdominal amputation, resulting in a loss of quality of life. Two years after the limb-preserving surgery, this patient was disease free, with good functional results, including bipedal ambulation with support.