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Intramuscular Myxoma Associated with Fibrous Dysplasia

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Intramuscular Myxoma Associated with Fibrous Dysplasia Mazabraud’s Syndrome: Intramuscular Myxoma Associated with Fibrous Dysplasia Authors: Dr Fevziye Kabukcuoglu and Dr Yavuz Kabukcuoglu Creation date: January 2005 Scientific Editor: Prof Loic Guillevin Department of Pathology and Department of Orthopedics and Traumatology. Sisli Etfal Training and Research Hospital, Istanbul Turkey. [email protected] Abstract Key words Definition and disease name Differential Diagnosis Incidence Etiology Clinical Description Radiologic findings Histopathology Treatment Unresolved Questions References Abstract Mazabraud’s syndrome is a rare disease known as the association of intramuscular myxoma with fibrous dysplasia. The number of reported cases in 2004 is 55. Myxomas generally occur as multiple masses and fibrous dysplasia most commonly appear with its polyostotic form. Both lesions tend to involve the same anatomical region. Patients usually present with a painless mass with a history of long duration due top lack of symptoms. Most fibrous dysplasias are asymptomatic while some may appear with pain, skeletal deformities or fractures. Generally fibrous dysplasias occur during the growth period and the myxomas appear during adult life. The relationship between fibrous dysplasia and myxoma remains unclear, where an underlying localized error in tissue metabolism has been proposed. Molecular genetic analysis has shown activating mutations in GNAS1 gene. Several benign lesions as well as richly myxoid malignant lesions may be confused with myxoma. Histopathologic examination should be carried out to exclude malignancy. Treatment is dependent on the extent of the lesions. Malignant transformation of myxoma is not reported, although local recurrence may be expected if incompletely resected. While sarcomatous transformation is uncommon for fibrous dysplasia, greater risk has been reported for Mazabraud’s syndrome. In a patient with soft tissue mass and multiple bone lesions, it is important to recognize Mazabraud’s syndrome for appropriate management of the patient. Key words Mazabraud’s syndrome, intramuscular myxoma, fibrous dysplasia Definition and disease name Mazabraud’s syndrome is a rare disease Differential Diagnosis described as the association of single or multiple Many different lesions like enchondroma, intramuscular myxomas with monostotic or aneurysmal bone cyst, chondrosarcoma, simple polyostotic form of fibrous dysplasia. This bone cyst, low grade central osteosarcoma, relationship was first noted in a case of osteitis nonossifying fibroma, osteofibrous dysplasia and fibrosa and multiple myxomas (Henschen, medullary bone infarct are considered in 1926). Mazabraud et al. reviewed the literature radiographic differential diagnosis of fibrous of and proposed the existence of a syndrome dysplasia especially if the lesion is monostotic. characterized by intramuscular myxoma and Although in most cases fibrous dysplasia fibrous dysplasia of bone (Mazabraud,1967). exhibits a very characteristic histologic picture, Kabukcuoglu F, Kabukcuoglu Y. Mazabraud’s Syndrome: Intramuscular Myxoma Associated with Fibrous Dysplasia, Orphanet encyclopedia. January 2005: http://www.orpha.net/data/patho/GB/uk-Mazabraud.pdf 1 sometimes it may be necessary to distinguish it common, yet, undetermined denominator has from lesions like desmoplastic fibroma, been proposed to explain the origin. ostefibrous dysplasia, nonossifying fibroma, and Molecular genetic analysis has shown point low grade central osteosarcoma. Osteofibrous mutations in the GNAS-1 gene encoding a signal dysplasia and fibrous dysplasia exhibit similar transduction protein that regulates the cellular radiologic and histopathologic features. The cyclic adenosine monophosphate level in former lesion has a predilection for the cortex of intramuscular myxoma. (Okomato, 2000) the tibia. Osteofibrous dysplasia has immature Mutations in codon 211 were detected in five of nonlamellar bone rimmed by osteoblasts. When six intramuscular myxoma cases with the bone formation is limited there may be a Mazabraud’s syndrome (Faivre, 2001) The same problem in distinguishing from non ossifying Gsα mutations also have been detected in fibroma. Osteosarcoma has pleomorphic cells McCune Albright syndrome as well as in with frequent mitosis. The distinctive trabecular sporadic intramuscular myxoma (Schwindinger, pattern is not present. 1992, Cohen, 2002). Benign and malignant myxoid lesions may be confused with intramuscular myxoma. Benign Clinical Description tumors like myxolipoma, myxoid neurofibroma, Intramuscular myxoma is a tumor of adult life. neurothecoma, myxochondroma and nodular About two thirds of the patients are female fasciitis may show areas resembling (Iwasko, 2002). Most patients present with a intramuscular myxoma. It is important to painless mass usually with a history of long recognize richly myxoid malignant tumours like duration due to relative lack of symptoms. myxoid malignant fibrous histiocytoma, myxoid (Gianoutsos, 1990) The lesions involve the lower liposarcoma, low grade fibromyxoid sarcoma extremities more commonly. While intramuscular and myxoid chondrosarcoma in differential myxomas are solitary, 81% of patients with diagnosis. While low-grade malignant fibrous Mazabraud’s syndrome have multiple myxomas histiocytoma (myxofibrosarcoma) is a (Prayson, 1993). They tend to be multiple and hypocellular lesion with abundant myxoid appear in close proximity to the region of the stroma, there is always nuclear hyperchromasia most severely affected bone. However a and cytologic atypia leading to a malignant contiguous connection between a myxoma and a tumour. Myxoid liposarcoma has a regular fibrous dysplasia has never been established. plexiform vasculature, stellate cells with mild The number and size of myxoma and dysplasia cytologic atypia and lipoblasts. Low grade lesions occur irrespective of each other. fibromyxoid sarcoma is another entity Most fibrous dysplasia are asymptomatic. characterized by uniform spindle shaped cells, Symptoms occur many years after the presence myxoid matrix, and swirling arrangement of of the lesion. Some patients present with pain, tumour cells around thin walled capillaries. skeletal deformities, and pathologic fractures Myxoid chondrosarcoma is identified by nests particularly for lesions of the lower extremities and chords of cells with dense eosinophilic when not accompanying myxomas, fibrous stroma in a chondroitin sulfate rich stroma dysplasia tends to be monostotic. Most patients (Enzinger, 2001). Awareness of Mazabraud’s with Mazabraud’s syndrome present with the syndrome, especially when the myxoma is polyostotic form of the disease but monostotic solitary, can prevent misdiagnosing a malignant involvement has been reported as well mesenchymal tumour. (Sundaram,1989). The lower extremities are most commonly affected. There is predilection Incidence for one side of the body in polyostotic form of the Mazabraud’s syndrome is rare. Individual disease. In most cases fibrous dysplasia is noted sporadic cases have been reported. The number during the growth period while myxomas of reported cases in 2004 is 55. become apparent during adult life. (Wirth, 1971, Blazier, 1986) Rarely multiple intramuscular Etiology myxomas are detected before the osseous The relationship between the two lesions lesions (Court-Payen,1997). remains unclear. A basic error in tissue metabolism persistent years beyond initial Radiologic findings growth and restricted to the regions of bony Radiographic appearance of fibrous dysplasia involvement has been proposed. (Wirth, 1971) varies with the proportion of osseous and fibrous Also higher incidences of minor bone tissue. The more fibrous lesions show greater abnormalities like cortical thickening, cystic lucency exhibiting a ground glass appearance, translucencies, exostoses or supernumerary while the osseous lesions are dense and bones have been detected accompanying sclerotic. Besides secondary calcifications or intramuscular mxyoma (Miettinen, 1985). A ossification patterns may be observed. The Kabukcuoglu F, Kabukcuoglu Y. Mazabraud’s Syndrome: Intramuscular Myxoma Associated with Fibrous Dysplasia, Orphanet encyclopedia. January 2005: http://www.orpha.net/data/patho/GB/uk-Mazabraud.pdf 2 borders are well defined. The cortex is usually is possible with incomplete resection of the intact, but it may be thinned due to expansive lesion (Miettinen, 1985. Silver, 2002). nature of the lesion. Bone scintigraphy is useful Clinical course of fibrous dysplasia is variable. in showing the activity and multicentricity of the When the lesions are extensive the fibrous lesions (Hoshi,1990). Computed tomography dysplasia may progress to marked deformities helps to point out the extent of bone involvement and fractures. The disease progresses slowly (Daffner 1982) . Magnetic resonance image and has a favorable prognosis if the involvement show homogenous moderately low signal is local. intensity on T1 weighted images. On T2 weighted Patients with multiple intramuscular myxomas images the signal may be mixed or high. Signal should be preoperatively examined for osseous intensity on T1 and T2 weighted images depend lesions. A proper histopathologic examination is on the degree of bone trabeculae, fibrous tissue, necessary to exclude malignancy or metastatic cystic and hemorrhagic changes. The sclerotic tumor in an elderly patient (Kabukcuoglu, 2004). rim is seen as a band of signal intensity on both A post-operative follow up is also needed to T1 and T2 sequences (Jee,1996). detect
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