Maffucci Syndrome with Hemangioma of the Liver
نویسندگان
چکیده
The presence of visceral hemangiomas in the syndrome of multiple enchondromas and subcutaneous hemangiomas, also named Maffucci syndrome, is exceedingly rare; until now noncutaneous hemangiomas have been described in 4 patients: they were found in the tongue in one patient, in the oral cavity in the second patient, in both the oral cavity and the colon in the third patient, and in the spleen in the fourth patient. We report the first case of hemangioma localized in the liver in a patient with Maffucci syndrome; furthermore, due to the impossibility of carrying out an MRI to define the hepatic lesion, an ultrasonographic real-time perfusion imaging study with a contrast agent was performed.
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معرفی یک بیمار مبتلا به سندرم مافوچی
Introduction: Maffucci syndrome is a rare clinical entity (approximately 200 cases have been reported in the medical literature) with a combination occurrence of multiple enchodroma and vascular tumors. Case Report: Our patient was an 18 year old girl born in a non-consanguineous marriage with finger and toe bones disorders (enchondroma) causing deformity of fingers and toes with multiple vas...
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INTRODUCTION Maffucci syndrome is a rare clinical entity (approximately 200 cases have been reported in the medical literature) with a combined occurrence of multiple enchondromas and vascular tumors. CASE PRESENTATION The case of a 43-year-old Japanese man with multiple chondromas and hemangiomas (Maffucci syndrome) is reported. One of the hemangiomas was removed and examined pathologically....
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Figure 1. Multiple hemangiomas causing painful and unsightly soft tissue swelling.
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We report on a 24-year-old woman who was diagnosed as having Maffucci syndrome with anaplastic astrocytoma. We analyzed the IDH1 and IDH2 mutations of enchondroma, hemangioma and anaplastic astrocytoma tissues and the same somatic mosaic mutation in IDH2 gene was identified in all these tissues. In addition, we identified additional mutation of the TP53 gene in anaplastic astrocytoma tissue but...
متن کاملThe Appearance of Maffucci Syndrome on 18F-FDG PET/CT.
Maffucci syndrome is a rare condition with multiple enchondromas and hemangiomas. Fewer than 200 cases have been reported in the United States. There is a high predilection for neoplastic changes, and PET/CT has an important role in detecting these changes.
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