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.
    Annals of Medicine and Surgery 09/2015; 4(4). DOI:10.1016/j.amsu.2015.09.009
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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.
    07/2013; 2(4):2047981613492532. DOI:10.1177/2047981613492532
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    ABSTRACT: Introducción. La tumoraciones no pulsátiles inguinales son tratadas por cirujanos vasculares por su relación con los vasos femorales. El mixoma intramuscular es un caso raro de tumor benigno con tendencia a la compresión de las estructuras vecinas y con potencial de recidiva local. La resección completa con márgenes amplios es el tratamiento indicado para ellos. Caso clínico. Varón de 57 años. Clínica de parestesias en cara anteriomedial del muslo izquierdo, ausencia de patología vascular en la extremidad afectada. En la exploración, se palpa una masa inguinal bien delimitada, blanda, compresible, no fluctuante, adherida a planos profundos, no dolorosa a la palpación, de 10 cm de diámetro. En el estudio radiológico mediante tomografía axial computarizada y resonancia magnética, se demuestra una colección líquida de contorno liso y bien definido, en íntimo contacto con el músculo psoasilíaco que se prolonga por encima del anillo inguinal con imagen en ¿reloj de arena¿ con desplazamiento de vasos femorales y sospecha diagnóstica de bursitis. Tras la resección quirúrgica, el estudio anatomopatológico es compatible con el diagnóstico de mixoma intramuscular. Conclusión. Se trata de la primera descripción en la literatura de este tumor en esta localización anatómica y con la forma en ¿reloj de arena¿ a través del anillo inguinal. Constituye una posibilidad a tener en cuenta en tumores de partes blandas en la región inguinal.
    Angiología 01/2005; 57(6). DOI:10.1016/S0003-3170(05)74941-5
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