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DOI:10.2214/AJR.05.1496
AJR 2007; 189:W353-W356
© American Roentgen Ray Society

Case Report

Correlative Imaging in an Atypical Case of Mazabraud Syndrome

Andrew McLaughlin1,2, Paul Stalley1, Michael Magee1,2, Judy Soper1 and Hans Van der Wall2

1 Royal Prince Alfred Hospital, Camperdown, New South Wales, Australia.
2 Department of Nuclear Medicine, Concord Hospital, Multi-Building Hospital Rd., Concord, New South Wales 2139, Australia.

Received August 25, 2005; accepted after revision October 10, 2005.

 
Address correspondence to H. Van der Wall.

WEB This is a Web exclusive article.

Keywords: bone • MRI • Mazabraud syndrome • musculoskeletal system • nuclear medicine


Introduction
Top
 Introduction
Case Report
 Discussion
 References
 
Mazabraud syndrome is a rare phenomenon that reflects the association between intramuscular myxoma and fibrous dysplasia, which is usually polyostotic. Approximately 40 cases have been described in the literature since the initial report by Henschen [1] in 1926. Mazabraud et al. [2] in 1967 emphasized the association as part of the spectrum of fibrous dysplasia. We present an atypical example of the syndrome and the characteristic difficulties encountered in interpretation of correlative images that necessitated biopsy of the bone and soft-tissue components for a firm diagnosis.


Figure 1
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  		Fig. 1A —53-year-old woman with Mazabraud syndrome. Radiographs of left humerus (A) and forearm (B) show multiloculated radiolucent expansile intramedullary masses involving entire shaft of left humerus and most of radius. Associated endosteal scalloping and focal areas of bone expansion without periosteal reaction are evident. Findings were thought consistent with polyostotic fibrous dysplasia.

 


Figure 2
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  		Fig. 1B —53-year-old woman with Mazabraud syndrome. Radiographs of left humerus (A) and forearm (B) show multiloculated radiolucent expansile intramedullary masses involving entire shaft of left humerus and most of radius. Associated endosteal scalloping and focal areas of bone expansion without periosteal reaction are evident. Findings were thought consistent with polyostotic fibrous dysplasia.

 

Case Report
Top
 Introduction
 Case Report
Discussion
 References
 
A 53-year-old woman presented with a hard painless mass in the left deltoid muscle that had been noticed by her daughter. The patient had no symptoms, and the age of the mass was indeterminate. Sonography revealed a 51 x 46 x 48 mm oval hypoechoic soft-tissue mass within the deltoid muscle of the left arm. There was no involvement of the adjacent humerus. Radiographs of the humerus and forearm (Figs. 1A and 1B) showed multiloculated radiolucent expansile intramedullary masses involving the entire length of the left humeral shaft and most of the radius. There was associated endosteal scalloping and focal bone expansion without periosteal reaction. The findings were consistent with polyostotic fibrous dysplasia.


Figure 3
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  		Fig. 1C —53-year-old woman with Mazabraud syndrome. T1-weighted MR images of left arm show well-defined soft-tissue mass (arrowhead, C) in posterior deltoid muscle with low signal intensity compared with adjacent muscle. Medullary cavity of humerus exhibits reduced signal intensity; focal area of increased signal intensity is evident in distal humerus.

 


Figure 4
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  		Fig. 1D —53-year-old woman with Mazabraud syndrome. T1-weighted MR images of left arm show well-defined soft-tissue mass (arrowhead, C) in posterior deltoid muscle with low signal intensity compared with adjacent muscle. Medullary cavity of humerus exhibits reduced signal intensity; focal area of increased signal intensity is evident in distal humerus.

 


Figure 5
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  		Fig. 1E —53-year-old woman with Mazabraud syndrome. T2-weighted MR images of left arm show uniformly high signal intensity of soft-tissue mass and most of medullary cavity of humerus.

 


Figure 6
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  		Fig. 1F —53-year-old woman with Mazabraud syndrome. T2-weighted MR images of left arm show uniformly high signal intensity of soft-tissue mass and most of medullary cavity of humerus.

 


Figure 7
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  		Fig. 1G —53-year-old woman with Mazabraud syndrome. MR images of left arm after administration of paramagnetic contrast material show heterogeneous central enhancement of soft-tissue mass and rimlike peripheral enhancement (arrows, H). Diffuse enhancement is evident in medullary cavity of humerus. Imaging features are those of intramuscular myxoma and fibrous dysplasia. Initial interpretation of study was of suspicion of soft-tissue sarcoma.

 


Figure 8
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  		Fig. 1H —53-year-old woman with Mazabraud syndrome. MR images of left arm after administration of paramagnetic contrast material show heterogeneous central enhancement of soft-tissue mass and rimlike peripheral enhancement (arrows, H). Diffuse enhancement is evident in medullary cavity of humerus. Imaging features are those of intramuscular myxoma and fibrous dysplasia. Initial interpretation of study was of suspicion of soft-tissue sarcoma.

 
MRI of the left arm (Figs. 1C, 1D, 1E, 1F, 1G and 1H) showed that the mass was located in the posterior belly of the deltoid muscle. The initial MRI interpretation was suspected soft-tissue sarcoma. The findings at reinterpretation did not agree with the initial finding. Changes in bone marrow signal intensity involving the humeral shaft and glenoid cavity were thought consistent with fibrous dysplasia.


Figure 9
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  		Fig. 1I —53-year-old woman with Mazabraud syndrome. Initial blood pool bone scintigraphic study shows no hyperemia in region of soft-tissue mass in deltoid muscle and mild diffuse hyperemia (arrowheads) in humeral shaft.

 


Figure 10
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  		Fig. 1J —53-year-old woman with Mazabraud syndrome. Delayed bone scintigraphic images show increased uptake (arrows) in left glenoid and scapula (J and K), humerus (L), and radius (M) and carpal bones (N) of left hand. This pattern of uptake is confluent in radius and hand. These appearances were interpreted as polyostotic fibrous dysplasia.

 


Figure 11
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  		Fig. 1K —53-year-old woman with Mazabraud syndrome. Delayed bone scintigraphic images show increased uptake (arrows) in left glenoid and scapula (J and K), humerus (L), and radius (M) and carpal bones (N) of left hand. This pattern of uptake is confluent in radius and hand. These appearances were interpreted as polyostotic fibrous dysplasia.

 


Figure 12
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  		Fig. 1L —53-year-old woman with Mazabraud syndrome. Delayed bone scintigraphic images show increased uptake (arrows) in left glenoid and scapula (J and K), humerus (L), and radius (M) and carpal bones (N) of left hand. This pattern of uptake is confluent in radius and hand. These appearances were interpreted as polyostotic fibrous dysplasia.

 
A staging whole-body bone scan (Figs. 1I, 1J, 1K, 1L, 1M, 1N, 1O and 1P) revealed no hyperemia at the site of the mass in the left deltoid but did reveal intense radiotracer uptake by the left scapula, left humerus, and radius, where the uptake was confluent with that in the hand. Abnormal uptake by the left first metacarpal and both phalanges also was evident. These changes were interpreted as polyostotic fibrous dysplasia.


Figure 13
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  		Fig. 1M —53-year-old woman with Mazabraud syndrome. Delayed bone scintigraphic images show increased uptake (arrows) in left glenoid and scapula (J and K), humerus (L), and radius (M) and carpal bones (N) of left hand. This pattern of uptake is confluent in radius and hand. These appearances were interpreted as polyostotic fibrous dysplasia.

 

Figure 14
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  		Fig. 1N —53-year-old woman with Mazabraud syndrome. Delayed bone scintigraphic images show increased uptake (arrows) in left glenoid and scapula (J and K), humerus (L), and radius (M) and carpal bones (N) of left hand. This pattern of uptake is confluent in radius and hand. These appearances were interpreted as polyostotic fibrous dysplasia.

 

Figure 15
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  		Fig. 1O —53-year-old woman with Mazabraud syndrome. Delayed bone scintigraphic images show increased uptake (arrows) in left glenoid and scapula (J and K), humerus (L), and radius (M) and carpal bones (N) of left hand. This pattern of uptake is confluent in radius and hand. These appearances were interpreted as polyostotic fibrous dysplasia.

 

Figure 16
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  		Fig. 1P —53-year-old woman with Mazabraud syndrome. Delayed bone scintigraphic images show increased uptake (arrows) in left glenoid and scapula (J and K), humerus (L), and radius (M) and carpal bones (N) of left hand. This pattern of uptake is confluent in radius and hand. These appearances were interpreted as polyostotic fibrous dysplasia.

 
Biopsy of the soft-tissue mass and proximal humerus was conducted because of the possibility of the presence of malignancy. The histologic findings were consistent with intramuscular myxoma without evidence of malignancy. Findings at histologic examination of the bone biopsy specimen were thought consistent with fibrous dysplasia or nonossifying fibroma. These two findings were interpreted as being consistent with Mazabraud syndrome.


Discussion
Top
 Introduction
 Case Report
 Discussion
References
 
This case represents the typical difficulties experienced in using imaging alone to make a final diagnosis of Mazabraud syndrome. Biopsy is almost a prerequisite for the diagnosis, as shown in most of the reported cases, possibly reflecting the rarity of the syndrome and the relative inexperience with it in the imaging literature. A number of clinical clues, however, can help in arriving at the diagnosis. Most ({approx} 70%) of the reported cases have occurred among women with a mean age of 46 years (range, 17-82 years). The clinical presentation usually is in adulthood with the onset of a mass, possibly painful, in one of the large muscle groups of the thigh or buttocks. Multiple myxomas have been reported in most patients [3]. This finding is in contrast to the fibrous dysplasia component, which may be diagnosed in childhood. Several of the patients with the diagnosis of childhood fibrous dysplasia presented in adult life with intramuscular myxomas [4-6].

This case illustrates a number of unusual clinical features. The patient presented with a solitary painless mass in the left deltoid region, rather than the thigh or pelvis, as has been reported in most cases. Imaging led to suspicion of sarcoma, which has been the experience in a large proportion of the 40 cases reported. Most of the cases of fibrous dysplasia occurred in the lower limbs; in this case, however, fibrous dysplasia occurred only in the left upper extremity.

There have been several reports of the MRI features of intramuscular myxoma. The average size of the myxoma at diagnosis is 5 cm in diameter [3]. In a series of six cases [7], intramuscular myxoma had low signal intensity relative to adjacent skeletal muscle on T1-weighted images and high signal intensity on T2-weighted images. After administration of paramagnetic contrast material, heterogeneous enhancement was apparent with irregular rim enhancement. The degree of enhancement depended on the presence of solid myxoid and bridging fibrous septa at histologic examination. These features are unique and help differentiate myxoma from sarcoma [7]. The characteristic MRI features were clearly depicted in this case (Figs. 1C, 1D, 1E, 1F, 1G and 1H).

The radiographic features of fibrous dysplasia are well known; in tubular bone the dysplasia is predominantly intramedullary and diaphyseal. Lesions are most often radiolucent with a ground-glass appearance and are frequently well defined by a rim of reactive sclerosis. Endosteal erosion and bone expansion occasionally are present [8]. In uncomplicated cases, the MRI appearance is low signal intensity on T1-weighted and high signal intensity on T2-weighted images [9]. If fibrous tissue predominates, both T1- and T2-weighted signal intensity may be low, but enhancement occurs after administration of paramagnetic contrast material. This case shows the characteristic features of fibrous dysplasia on both radiographs (Figs. 1A and 1B) and MR images (Figs. 1C, 1D, 1E, 1F, 1G and 1H). Scintigraphy did not show soft-tissue hyperemia of the intramuscular myxoma, suggesting a benign cause. Other features of fibrous dysplasia were well illustrated in this case by asymmetric involvement of tubular bones by confluent areas of intense uptake [10]. These features help differentiate the entity from metastatic disease.

In conclusion, this case of a mass in the left deltoid muscle found to be Mazabraud syndrome at biopsy had two major atypical features not described, to our knowledge, in the extant literature. The presenting mass was in the upper extremity, and all sites of polyostotic fibrous dysplasia were in a monomelic distribution in the left upper extremity. Many of the imaging features were characteristic of the syndrome as reported in the literature, but the rarity of the syndrome led to delay in recognition of these features.


References
Top
 Introduction
 Case Report
 Discussion
 References
 

  1. Henschen F. Fall von ostitis fibrosa mit multiplen tumoren in der umgebenden muskulatur. Verh Dtsch Ges Pathol1926; 21:93 -97
  2. Mazabraud A, Semat P, Roze R. A propos de l'association de fibromyxomes des tissus mous a la dysplasie fibreuses des os. Presse Med 1967;75 : 2223-2228[Medline]
  3. Lopez-Ben R, Pitt MJ, Jaffe KA, Siegal GP. Osteosarcoma in a patient with McCune-Albright syndrome and Mazabraud's syndrome. Skeletal Radiol 1999;28 : 522-526[CrossRef][Medline]
  4. Biagini R, Ruggieri P, Boriani S, Picci P. The Mazabraud syndrome: case report and review of the literature. Ital J Orthop Traumatol 1987; 13:105 -111[Medline]
  5. Cabral CE, Guedes P, Fonseca T, Rezende JF, Cruz Júnior LC, Smith J. Polyostotic fibrous dysplasia associated with intramuscular myxomas: Mazabraud's syndrome. Skeletal Radiol1998; 27:278 -282[CrossRef][Medline]
  6. Pollandt K, Lohmann CH, Werner M, Delling G. Clinical pathological aspects of Mazabraud's syndrome [in German]. Pathologe2002; 23:357 -360[CrossRef][Medline]
  7. Iwasko N, Steinbach LS, Disler D, et al. Imaging findings in Mazabraud's syndrome: seven new cases. Skeletal Radiol2002; 31:81 -87[CrossRef][Medline]
  8. Chapurlat RD, Meunier PJ. Fibrous dysplasia of bone. Baillieres Best Pract Res Clin Rheumatol2000; 14:385 -398[CrossRef][Medline]
  9. Stiglbauer R, Ritschl P, Kramer J, Imhof H. Fibrous dysplasia: its appearance in the magnetic resonance tomogram. Rofo1989; 151:338 -341[Medline]
  10. Kransdorf MJ, Moser RP Jr, Gilkey FW. Fibrous dysplasia. RadioGraphics 1990;10 : 519-537[Abstract]

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