Mazabraud's syndrome: Intramuscular myxoma associated with fibrous dysplasia

Department of Pathology, Sisli Etfal Training and Research Hospital, Istanbul, 81160, Turkey.
Pathology & Oncology Research (Impact Factor: 1.86). 02/2004; 10(2):121-3. DOI: 10.1007/BF02893467
Source: PubMed


The association of fibrous dysplasia and intramuscular myxoma is a rare disease known as Mazabraud's syndrome. Both lesions tend to occur in the same anatomical region. The relationship between fibrous dysplasia and myxoma remains unclear, where an underlying localized error in tissue metabolism has been proposed to explain this occasional coexistence. Another example of this syndrome in a 52 year-old woman is reported. The patient presented with a soft tissue mass at the anteromedial mid part of the left thigh. After excision of the mass, three separate bone lesions were detected in her control MRI. The soft tissue mass was misdiagnosed as liposarcoma in another center, and the bone lesions were interpreted as metastasis. The hypocellularity and the indistinct vascular pattern of the lesion were consistent with myxoma. The Jam-Shidi needle biopsies of the osseous lesions were diagnosed as fibrous dysplasia. The recognition of this entity is important for appropriate management of the patient. Patients with soft tissue myxomas should be thoroughly examined for fibrous dysplasia. The greater risk of sarcomatous transformation in fibrous dysplasia with Mazabraud's syndrome should also be kept in mind.

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    • "Henschen first reported Mazabraud's Syndrome in 1926 [1]. The classic description of benign soft tissue myxomas associated with fibrous dysplasia of bone was later on detailed by Mazabraud et al. [2] To date, less than 100 cases of Mazabraud's Syndrome have been described in the literature [3] [4] with more of female predominance [5]. Herein, and as to the best of our knowledge, we present the first case of this syndrome from Saudi Arabia and Middle East, with a brief review of the literature related to such presentation. "
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    ABSTRACT: Introduction: Mazabraud's syndrome, a rare benign disease with indolent course, is best described as an association between soft tissue myxoma and fibrous dysplasia of the bones. In this report, we describe the first case of this syndrome from Saudi Arabia. Case presentation: A 24-year-old male in overall good health status, presented with progressive left knee swelling over 6 years with no other associated symptoms. The swelling measured 5 cm in diameter, with smooth surface, and soft palpable texture. Radiological examination followed by histopathological examination of the excised mass confirmed our diagnosis of Mazabraud's syndrome. The patient was closely followed up with systematic examination with no recurrence. Discussion: Fibrous dysplasia, soft tissue myxoma and multiple endocrinological diseases like McCune-Albright syndrome characterize Mazabraud's syndrome. Furthermore, fibrous dysplasia is found to be associated with GNA1S gene mutation. Many patients can have asymptomatic course of the disease but may present with pathological fractures, pain, and limitation of movement when the myxoma is near the joints or just simple cosmetically disturbing swelling like in our case. Conclusion: Patients with such presentation need to be investigated thoroughly to rule out associated diseases and to evaluate the extent of such pathology. The improvement of radiological modalities can help in narrowing the differential diagnosis and following the patient to early detect the recurrence or any malignant transformation of the condition.
    Full-text · Article · Sep 2015 · Annals of Medicine and Surgery
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    • "Collagenous and vascular structures are sparse. The cells have a stellate shape with small hyperchromatic pyknotic nuclei and scant cytoplasm (11, 14). "
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    ABSTRACT: Mazabraud's syndrome is a rare disorder characterized by the association of single or multiple intramuscular myxomas with fibrous dysplasia. Here, we present the first case of Mazabraud's syndrome visualized on 18F-FDG PET/CT with histopathological confirmation of the myxoma. Our case demonstrates a slightly increased FDG uptake (SUVmax 2.1) within the myxomas and a moderately to highly increased tracer uptake (SUVmax 7.0) within the fibrous dysplastic lesions. The typical histological appearance of the intramuscular myxoma confirmed the radiological diagnosis. Further, we discuss the imaging findings and the histopathological features of this rare case with a review of the related literature.
    Full-text · Article · Jul 2013
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    ABSTRACT: Introduction. Due to their relationship with the femoral vessels non-pulsatile inguinal tumours are treated by vascular surgeons. Intramuscular myxomas are a rare case of benign tumours with a tendency to compress neighbouring structures and are potentially capable of recurring locally. They are best treated by means of complete resection with wide margins around the excision. Case report. We report the case of a 57-year-old male whose clinical symptoms included paresthesias in the anteromedial side of the left thigh in the absence of any vascular pathology in the affected extremity. Examination of the patient revealed a well-defined, soft, compressible, non-fluctuating inguinal mass adhered to deep structures, with a diameter of 10 cm and which was not painful when palpated. A radiological study using computerised axial tomography and magnetic resonance scanning showed the presence of a smooth-contoured, well-defined collection of liquid that was in contact with the psoas-iliac muscle and which extended above the inguinal ring with a sandglass-shaped image and displacement of the femoral vessels and a suspected diagnosis of bursitis. After surgical resection, the pathology study was compatible with the diagnosis of intramuscular myxoma. Conclusions. This is the first time this tumour has been reported in the literature as appearing in this anatomical location and with a 'sandglass' shape crossing the inguinal ring. It is therefore a possibility that must be taken into account in cases of tumours in the soft parts of the inguinal region.
    No preview · Article · Nov 2005 · Angiología
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