A Rare Variant of Mazabraud’s Syndrome Overlapping with McCune-Albright Syndrome with a Clinical Review: A Case Report
- Author:
Da Woon LEE
1
;
Si Hyun KWAK
;
Si-Hyong JANG
;
Hwan Jun CHOI
;
Jun Hyuk KIM
Author Information
- Publication Type:Case Report
- From:Soonchunhyang Medical Science 2022;28(1):44-48
- CountryRepublic of Korea
- Language:English
- 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.
