(Radiology. 1999;212:129-132.)
© RSNA, 1999
Case 12: Mazabraud Syndrome1
Mark J. Kransdorf, MD and
Mark D. Murphey, MD
1 From the Department of Radiology, Saint Mary's Hospital, 5801 Bremo Rd, Richmond, VA 23226 (M.J.K.); the Department of Radiologic Pathology, Armed Forces Institute of Pathology, Washington, DC (M.J.K., M.D.M.); the Department of Radiology and Nuclear Medicine, Uniformed Services University of the Health Sciences, Bethesda, Md (M.D.M.); and the Department of Radiology, University of Maryland School of Medicine, Baltimore, Md (M.D.M.). Received June 9, 1998; revision requested June 30; revision received July 22; accepted October 19. Address reprint requests to M.J.K.
Index terms: Bones, fibrous dysplasia, 45.355 • Diagnosis please • Mazabraud syndrome, 45.31, 45.355 • Myxoma, 45.31 • Soft tissues, MR, 45.121411, 45.12143 • Soft tissues, neoplasms, 45.355
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HISTORY
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A 34-year-old woman presented for evaluation of a soft-tissue mass in the lateral aspect of the right lower leg.
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IMAGING FINDINGS
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Magnetic resonance (MR) imaging of the right lower extremity showed a well-defined soft-tissue mass with a fluidlike signal intensity in the peroneus longus muscle (Fig 1). There was an expansile remodeled contour to the fibula, with diffuse replacement of the normal fatty marrow and tissue, which demonstrates a relatively homogeneous intermediate signal intensity on T1-weighted images and heterogeneous intermediate signal intensity on T2-weighted images. Imaging performed after the intravenous administration of contrast material showed moderate heterogeneous enhancement. Similar changes were seen in the tibia.
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Figure 1a. (a) Axial T2-weighted (1,800/80 [repetition time msec/echo time msec]) spin-echo MR image of the right lower leg at the level of the midcalf shows a well-defined soft-tissue mass (X) in the peroneus longus muscle with a signal intensity much greater than that of fat. Note the expansile remodeled contour to the fibula (black *) with a signal intensity slightly greater than that of skeletal muscle. There are similar but milder changes in the tibia (white *). (b) Coronal precontrast T1-weighted (700/20) spin-echo MR image of the right lower leg through the level of the fibula (large *) shows the soft-tissue mass (small *) to have a signal intensity less than that of skeletal muscle. There is replacement of the normal fatty marrow in the fibula with tissue with a signal intensity less than that of skeletal muscle. (c) Coronal postcontrast T1-weighted (700/20) spin-echo MR image of the right lower leg at the same position as in b. There is moderate heterogeneous enhancement of the fibula (large *), with less enhancement in the soft-tissue mass (small *).
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Figure 1b. (a) Axial T2-weighted (1,800/80 [repetition time msec/echo time msec]) spin-echo MR image of the right lower leg at the level of the midcalf shows a well-defined soft-tissue mass (X) in the peroneus longus muscle with a signal intensity much greater than that of fat. Note the expansile remodeled contour to the fibula (black *) with a signal intensity slightly greater than that of skeletal muscle. There are similar but milder changes in the tibia (white *). (b) Coronal precontrast T1-weighted (700/20) spin-echo MR image of the right lower leg through the level of the fibula (large *) shows the soft-tissue mass (small *) to have a signal intensity less than that of skeletal muscle. There is replacement of the normal fatty marrow in the fibula with tissue with a signal intensity less than that of skeletal muscle. (c) Coronal postcontrast T1-weighted (700/20) spin-echo MR image of the right lower leg at the same position as in b. There is moderate heterogeneous enhancement of the fibula (large *), with less enhancement in the soft-tissue mass (small *).
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Figure 1c. (a) Axial T2-weighted (1,800/80 [repetition time msec/echo time msec]) spin-echo MR image of the right lower leg at the level of the midcalf shows a well-defined soft-tissue mass (X) in the peroneus longus muscle with a signal intensity much greater than that of fat. Note the expansile remodeled contour to the fibula (black *) with a signal intensity slightly greater than that of skeletal muscle. There are similar but milder changes in the tibia (white *). (b) Coronal precontrast T1-weighted (700/20) spin-echo MR image of the right lower leg through the level of the fibula (large *) shows the soft-tissue mass (small *) to have a signal intensity less than that of skeletal muscle. There is replacement of the normal fatty marrow in the fibula with tissue with a signal intensity less than that of skeletal muscle. (c) Coronal postcontrast T1-weighted (700/20) spin-echo MR image of the right lower leg at the same position as in b. There is moderate heterogeneous enhancement of the fibula (large *), with less enhancement in the soft-tissue mass (small *).
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A radiograph of the right lower leg (Fig 2) showed areas of mild expansile remodeling of both the tibia and fibula, with endosteal scalloping and cortical thinning. There are regions of increased opacity to the bone that showed a ground-glass character. The identification of a well-defined soft-tissue mass with a fluidlike signal intensity and multiple bone lesions compatible with fibrous dysplasia established the diagnosis of Mazabraud syndrome.
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Figure 2. Anteroposterior radiograph of the right lower leg shows areas of mild expansile remodeling with endosteal scalloping and cortical thinning in both the tibia and fibula. There are regions of increased opacity to the bone that show a ground-glass character.
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DISCUSSION
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The key to the correct diagnosis is the identification of abnormalities in both the soft-tissue and osseous structures. Evaluation of the fibula (Fig 1b, 1c) shows moderate to marked expansile remodeling with extensive replacement of the normal marrow. There is no evidence of soft-tissue extension, and the area of marrow replacement enhances extensively after the administration of contrast material. The tibia shows similar marrow abnormalities. Although one is ill-advised to interpret musculoskeletal MR images without radiographs, the identification of multiple extensive diaphyseal lesions with expansile remodeling in long bones strongly suggests polyostotic fibrous dysplasia.
The MR signal intensity of lesions in fibrous dysplasia is quite variable. On T2-weighted images, lesions are homogeneous to mildly heterogeneous, with about 60% of cases showing a signal intensity greater than that of fat. The remaining lesions will show either an intermediate or low signal intensity on T2-weighted images. All lesions demonstrate decreased signal intensity on T1-weighted images (1,2). The diagnosis of fibrous dysplasia is readily confirmed on the corresponding radiograph (Fig 2). The adjacent soft-tissue mass is located within the substance of the peroneus longus muscle. It shows a well-defined margin with a homogeneous signal intensity similar to that of fluid, with mild heterogeneous septumlike enhancement. These imaging characteristics strongly suggest a myxomatous mass.
The association of fibrous dysplasia with soft-tissue myxoma has been well established. This association was described by Henschen in 1926 (3), and it was emphasized by Mazabraud et al in 1967 (4) and is often referred to as "Mazabraud syndrome." Sundaram et al (5) reviewed the literature through 1987 and found a total of 17 reported cases. Soft-tissue myxoma is much more common with the polyostotic form of fibrous dysplasia but has been reported with monostotic involvement as well (5). The myxomas occur in the vicinity of the most severely affected bones and may be multiple (5,6). The association between these entities may be the result of a common origin for both fibrous dysplasia and myxoma (4), as well as a metabolic anomaly in the initial growth of both bone and soft tissue (7).
Malignant transformation in fibrous dysplasia is relatively uncommon, with a reported prevalence of approximately 0.5%, although two cases of malignant transformation have been reported in patients with Mazabraud syndrome (8). This suggests that patients with fibrous dysplasia and myxomas may be at greater risk for malignant transformation than are patients with fibrous dysplasia alone (8). Other diagnostic considerations for this case are quite limited. There are very few diseases in which there are multiple bone lesions with an associated soft-tissue tumor. Patients with neurofibromatosis may show abnormalities of both bone and soft tissue. Osseous changes in neurofibromatosis reflect the underlying mesodermal dysplasia; show bowing, pathologic fracture, and pseudarthrosis; and are usually readily separable from those of fibrous dysplasia. Biopsy is not usually performed on intramedullary lesions in neurofibromatosis; however, limited histologic study has shown these typically to be fibroxanthomas (nonossifying fibromas).
Abnormalities of the bone and soft tissue should also suggest the possibility of metastases. The MR appearance of metastatic carcinoma typically is associated with peritumoral high signal intensity on T2-weighted images, in contradistinction to the well-defined margin seen in the current case. Extraosseous involvement in patients with multiple myeloma is also quite common and occurs in about half the patients (9). The skin is a frequent site of involvement and typically manifests subcutaneous nodules (10). Subcutaneous metastases are also commonly seen in patients with malignant melanoma (11). Focal intramuscular soft-tissue involvement is rare in these conditions.
Maffucci syndrome, consisting of enchondromatosis with associated soft-tissue hemangiomas, should also be considered in any patient with osseous and soft-tissue lesions; however, this diagnosis can be excluded on the basis of lesion morphology and signal intensities. Lymphoma could also be a consideration, but skeletal muscle involvement in this entity is quite rare and usually reflects diffuse involvement of multiple muscle groups (12,13). Focal muscle involvement has been reported, but is exceedingly rare, and the morphology of the bone and soft-tissue findings also exclude this diagnosis.
Our congratulations to the 46 individuals who submitted the most likely diagnosis (Mazabraud syndrome) for Diagnosis Please, Case 12. Credit was given only if the syndrome was named or if both of its components (fibrous dysplasia and myxoma) were provided. The names and locations of the individuals, as submitted, are as follows:
- Paul Aitchison, MD, Charlottesville, Va
- William W. Atherton, DC, Chesterfield, Mo
- Edward L. Baker, MD, San Francisco, Calif
- Kenneth Baliga, MD, Rockford, Ill
- Charles H. Bush, MD, Gainesville, Fla
- Dr. V. N. Cassar-Pullicino, Shropshire, United Kingdom
- Pierre Chevalier, Belgium
- Marc G. de Baets, MD, Lugano, Switzerland
- Felipe Esteban Alonso, Madrid, Spain
- Russell C. Fritz, MD, Mill Valley, Calif
- Akira Fujikawa, Tokyo, Japan
- Mabel Gil Garcia, Lerida, Spain
- Terrence M. Gross, MD, Orlando, Fla
- Carlos Holguera Blazquez, MD, Madrid, Spain
- Timothy D. Kadlecek, DO, Granger, Ind
- Osamu Karakida, MD, Matsumoto, Japan
- Alan Laorr, Eden Prairie, Minn
- John Lin, MD, Ann Arbor, Mich
- Jaume Llauger, Barcelona, Spain
- Peter Miltner, MD, Heidelberg, Germany
- Manabu Minami, MD, Tokyo, Japan
- Hidetoshi Miyake, MD, Oita, Japan
- Sergio J. Moguillansky, MD, Rio Negro, Argentina
- Dr. Eduardo Mondello, Buenos Aires, Argentina
- Philip J. Munschauer, DO, Cincinnati, Ohio
- Dana Murakami, Las Vegas, Nev
- Art Newberg, MD, Boston, Mass
- Vung D. Nguyen, MD, San Antonio, Tex
- Marcello H. Nogueira Barbosa, MD, Ribeirão Preto, Brazil
- Narendrakumar Patel, MD, Newburgh, NY
- Shawn P. Quillin, MD, Charlotte, NC
- Matt Rheinboldt, MD, Lafayette, La
- Derek J. Roebuck, FRACR, Hong Kong, China
- David A. Rubin, MD, St Louis, Mo
- Steven M. Schultz, MD, Fort Worth, Tex
- Matt Shapiro, MD, Boxborough, Mass
- Margaret A. Stull, MD, Riverwoods, Ill
- Brian Sullivan, MD, Wauwatosa, Wis
- Douglas L. Teich, MD, Hermosa Beach, Calif
- John To, MD, Iron Mountain, Mich
- Filip Vanhoenacker, Duffel, Belgium
- Marnix van Holsbeeck, MD, Detroit, Mich
- Joan C. Vilanova, MD, Girona, Spain
- Craig W. Walker, MD, Omaha, Neb
- Cecilia S. F. Wang, Taiwan, ROC
- Michael G. Wysoki, MD, Philadelphia, Pa
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Footnotes
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The opinions or assertions contained herein are the private views of the authors and are not to be construed as official or as reflecting the views of the Department of the Army or the Department of Defense.
There was one individual who submitted the highest number of most likely diagnoses. The name of this person will be announced in an upcoming issue of the journal.
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References
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Henschen F. Fall von ostitis fibrosa mit multiplen tumoren in der umgebenden muskulatur. Verh Dtsch Ges Pathol 1926; 21:93-97.
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Mazabraud A, Semat P, Roze R. A propos de l'association de fibromyxomes des tissus mous a la dysplasie fibreuse des os. Presse Med 1967; 75:2223-2228.
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Sundaram M, McDonald DJ, Merenda G. Intramuscular myxoma: a rare but important association with fibrous dysplasia of bone. AJR 1989; 153:107-108.[Free Full Text]
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Abdelwahab IF, Kenan S, Hermann G, Lewis MM, Klein MJ. Intramuscular myxoma: magnetic resonance features. Br J Radiol 1992; 65:485-490.[Abstract/Free Full Text]
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Witkin GB, Guilford WB, Siegal GP. Osteogenic sarcoma and soft tissue myxoma in a patient with fibrous dysplasia and hemoglobins JBaltimore and S. Clin Orthop 1986; 204:245-252.
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Kapadia SB. Multiple myeloma: a clinicopathological study of 62 consecutively autopsied cases. Medicine 1980; 59:380-392.[Medline]
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Moulopoulos LA, Granfield CAJ, Dimopoulos MA, Kim EE, Alexanian R, Libshitz HI. Extraosseous multiple myeloma: imaging features. AJR 1993; 161:1083-1087.[Abstract/Free Full Text]
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Patten RM, Shuman WP, Teefey S. Subcutaneous metastases from malignant melanoma: prevalence and findings on CT. AJR 1989; 152:1009-1012.[Abstract/Free Full Text]
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Lee VS, Martinez S, Coleman ER. Primary muscle lymphoma: clinical and imaging findings. Radiology 1997; 203:237-244.[Abstract/Free Full Text]
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Travis WD, Banks PM, Reiman HM. Primary extranodal soft tissue lymphoma of the extremities. Am J Surg Pathol 1987; 11:359-366.[Medline]
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HISTORY
IMAGING FINDINGS
