Fibrous dysplasia of bone associated with soft-tissue myxomas as well as an intra-osseous myxoma in a woman with Mazabraud's syndrome: a case report

Abstract

IntroductionMazabraud's syndrome is a rare but well-described disorder characterized by fibrous dysplasia in single or multiple bones associated with one or more soft-tissue myxomas. In this report, we describe what is, to the best of our knowledge, the first case involving an intra-osseous myxoma. This finding supports, and could provide new insight into, the pathological association between fibrous dysplasia and myxomas.Case presentationIn this report, we describe the case of a 49-year-old Caucasian woman known for years to have fibrous dysplasia in the left femur and tibia who presented with progressive pain in her left leg and soft swelling in the left quadriceps region. After surgical intervention with excision of the soft-tissue mass, the diagnosis of Mazabraud's syndrome was confirmed. During follow-up, our patient presented with a painless mass located on the lateral side of the left knee, next to a second, intra-osseous lesion with the same characteristics in the left lateral tibial plateau. The histopathological examination was consistent with a soft-tissue intra-osseous myxoma.ConclusionIn the international literature, 67 cases of Mazabraud's syndrome have been described so far.To our knowledge, the present case report is the first to describe the combination of polyostotic fibrous dysplasia and intra-muscular as well as intra-osseous myxoma.

Intramuscular myxoma and fibrous dysplasia of bone presents as Mazabraud's syndrome

“…The fibrous dysplasia is associated with soft tissue myxomas that are located in the close vicinity of the bony lesion . The syndrome tends to occur more frequently in females than males . The development of fibrous dysplasia occurs early in life as described by our patient and it is reported that the intramuscular soft tissue myxomas occurs around the sixth decade of life and have a benign course .…”

“…The syndrome tends to occur more frequently in females than males . The development of fibrous dysplasia occurs early in life as described by our patient and it is reported that the intramuscular soft tissue myxomas occurs around the sixth decade of life and have a benign course . They are considered soft tissue hamartomas with tumour‐like growth .…”

Mazabraud's syndrome: case report and literature review

“…The disease is more frequent in women than men and patients are often asymptomatic. However, complications such as skeletal deformities, fractures and pain can occur (1, 6, 7). The etiology of Mazabraud's syndrome is unknown.…”

“…Soft tissue myxomas are benign mesenchymal tumors, and fibrous dysplasia is a benign, intra-medullary, fibro-osseous lesion (1). The first case of Mazabraud's syndrome was described by Henschen (2) in 1926, and a pattern of association between fibrous dysplasia and soft tissue myxomas was presented by Mazabraud et al .…”

An atypical monomelic presentation of Mazabraud syndrome

“…Fibrous dysplasia developed in bone is a benign and fibro osseous lesion, and myxomas presented as benign mesenchymal tumors 1. The first case was reported by Mazabraud,23 which was finally named after his name.…”