Maffucci Syndrome
نویسندگان
چکیده
Figure 1. Multiple hemangiomas causing painful and unsightly soft tissue swelling.
منابع مشابه
Syndrome de Maffucci: des enchondromes à surveiller de près
Le syndrome de Maffucci est une affection très rare caractérisée par l'association de chondromes multiples et d'hémangiomatose des parties molles. Les os les plus atteints dans cette affection sont par ordre de fréquence décroissant: les os de la main, les os des pieds, le fémur, les os de la jambe, le bassin, l'humérus et les os de l'avant-bras. Le risque majeur du syndrome de Maffucci reste l...
متن کاملHemangioma related to Maffucci syndrome in a man: a case report
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....
متن کاملMaffucci Syndrome Associated With Adrenocorticotropic Hormone–Independent Bilateral Macronodular Adrenal Hyperplasia
Context Maffucci syndrome is a rare, nonhereditary, mesodermal dysplastic disease characterized by the presence of multiple hemangiomas and enchondromas. This pathological condition, which is often unrecognized, is associated with a high prevalence of benign and malignant endocrine tumors involving pituitary, adrenal, thyroid, and parathyroid glands. Case Description We describe the case of a...
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.
متن کاملIDH2 and TP53 mutations are correlated with gliomagenesis in a patient with Maffucci syndrome
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...
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