Soonchunhyang Med Sci.  2022 Jun;28(1):44-48. 10.15746/sms.22.008.

A Rare Variant of Mazabraud’s Syndrome Overlapping with McCune-Albright Syndrome with a Clinical Review: A Case Report

• Lee DW
• Kwak SH
• Jang SH
• Choi HJ
• Kim JH

• KMID: 2531507
• DOI: http://doi.org/10.15746/sms.22.008

Abstract

Mazabraud syndrome (MS) is a rare and sporadic disorder. It is mainly characterized by fibrous dysplasia (FD) of single or multiple bones and intramuscular myxomas (IM). Data on the prevalence since it was first reported, clinical features, and prognosis are extremely scarce. We report a case of a 59-year-old woman with IM and polyostotic FD. She also had multiple cafe’-au-lait spots suggestive of McCune-Albright syndrome (MAS). On magnetic resonance imaging, there are masses with well-defined heterogeneous enhancement, accompanied by an inner cyst in the vastus lateralis muscle and femur. These radiological results are identical to those of FD. After surgical intervention with excision of intramuscular soft-tissue mass, a diagnosis of IM of MS was confirmed. Given that cafe’-au-lait spots also appeared, the patient was diagnosed with a variant of MS with some of the clinical characteristics of MAS.

Keyword

Mazabraud’s syndrome; Myxoma; Fibrous dysplasia; McCune-Albright syndrome; Case report