ABSTRACT
Maffucci syndrome is a rare nonhereditary disorder comprising of lymphovascular malformations and multiple enchondromas, which may be associated with several internal malignancies. This report describes a new association of Maffucci syndrome with pedal synovial sarcoma. Our case is also remarkable as lymphangioma circumscriptum is the sole lymphovascular component, which has been rarely reported. The aim of this report is to generate awareness about this rare condition and also highlight the importance of screening for malignancies in this disorder.
ABSTRACT
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.
Subject(s)
Adult , Humans , Male , Chondrosarcoma/complications , Enchondromatosis/etiology , Skull Base Neoplasms/complications , Chondrosarcoma/diagnosis , Chondrosarcoma/surgery , Enchondromatosis/diagnosis , Enchondromatosis/surgery , Magnetic Resonance Imaging , Skull Base Neoplasms/diagnosis , Skull Base Neoplasms/surgery , Tomography, X-Ray ComputedABSTRACT
Maffucci syndrome is a rare congenital non-inherited condition characterized by multiple enchondromas and cutaneous hemangiomas. It is associated with increased risk of malignancy, including chondrosarcomas, and because of generalized mesodermal dysplasia, aneurysms can develop. We present a case of Maffucci syndrome associated with intracranial chondrosarcoma and aneurysm.
Subject(s)
Aneurysm , Chondroma , Chondrosarcoma , Enchondromatosis , Hemangioma , Intracranial Aneurysm , MesodermABSTRACT
A case of a 21-year old female with Maffucci's syndrome is presented where the patient developed multiple cutaneous spindle-cell hemangioendotheliomas. She had multiple pea to walnut sized, non-tender, normal skin colored or slight bluish nodules and bony mass-like lesions on the left upper extremity and hand. A histological examination of the lesions showed that they were composed of irregularly dilated, thin walled cavernous blood spaces containing phleboliths and collapsed vascular spaces separated by spindled fibroblastic cells. Radiologically, the bony lesions showed radiolucent densities with calcified spots within the second proximal phalanx and metacarpal bone of the left hand, which were consistent with enchondromas.
Subject(s)
Female , Humans , Chondroma , Fibroblasts , Hand , Hemangioendothelioma , Juglans , Pisum sativum , Skin Pigmentation , Upper ExtremityABSTRACT
A case of Maffucci's syndrome is reported in a 6-year-old girl. She had multiple enchondromas of the long bones and the phalangeal bones with hemangiomatous skin lesions. The hemangiomas were the capillary type and were not anatomically related to the bone lesions.
Subject(s)
Child , Female , Humans , Capillaries , Chondroma , Enchondromatosis , Hemangioma , Hemangioma, Capillary , SkinABSTRACT
Maffuci's syndrome is characterized by defects in cartilage bone formation (dyschondroplasia) with subcutaneous multiple vascular hemangiomas, and often with enchondromas. More than 120 cases of this syndrome, which was first described by Maffucci in 1881, has been reported. But intracranial tumors are rare complication of this syndrome. In this paper we describe the 6th case in the world report of Maffucci's syndrome complicated by an intracranial tumor, which was confirmed histologically as a chondroma, and review the literature with regard to this rare complication of Maffucci's syndrome.