Mazabraud’s syndrome: a new case and review of the literature

• Published in: International orthopaedics Vol. 33; no. 3; pp. 605 - 610
• Main Authors: Zoccali, Carmine, Teori, Giuseppe, Prencipe, Umberto, Erba, Fabio
• Format: Journal Article
• Language: English
• Published: Berlin/Heidelberg Springer-Verlag 01.06.2009
• Subjects: Adult; Biomarkers, Tumor - metabolism; Female; Fibrous Dysplasia, Monostotic - complications; Fibrous Dysplasia, Monostotic - diagnosis; Fibrous Dysplasia, Monostotic - surgery; Humans; Magnetic Resonance Imaging; Male; Medicine; Medicine & Public Health; Muscle Neoplasms - complications; Muscle Neoplasms - diagnosis; Muscle Neoplasms - surgery; Myxoma - complications; Myxoma - diagnosis; Myxoma - surgery; Orthopedics; Positron-Emission Tomography; Review; S100 Proteins - metabolism; Syndrome; Thigh; Endocrine Disturbance; Benign Neoplasm; Fibrous Dysplasia; GNAS Gene; Precocious Puberty
• ISSN: 0341-2695; 1432-5195
• DOI: 10.1007/s00264-007-0483-x

The association between muscular myxomas and fibrous dysplasia is a rare condition known as Mazabraud’s syndrome, as reported by Henschen (Verh Dtsch Ges Pathol 21:93–97, 1926) and Mazabraud A and Girard (Rev Rhum Mal Osteoartic 24(9–10):652–659, 1957). We report a case of a 32-year-old woman with multiple myxomas in her right thigh and monomelic fibrous dysplasia. A review of the international literature referring to 67 cases to date was carried out. The syndrome is characterised by the following features: females are twice as likely to be affected as males; the lower limbs are the most frequently affected, fibrous dysplasia is more common in the femur and the pelvis and myxomas in the quadriceps muscle; myxoma is multiple in more than 70% of cases. Although there has never been any continuity between tumours and bone lesions, a significant correlation between dysplastic bone and myxoma has been revealed.