Mazabraud Syndrome Associated with McCune-Albright Syndrome: A Case Report and Literature Review

• Published in: Case reports in oncology Vol. 16; no. 1; pp. 300 - 307
• Main Authors: Boudin, Laurys, De Luca, Valeria, Mescam-Mancini, Léna, Niziers, Vincent, Perrot, Delphine, Guiramand, Jerome, Monneur, Audrey, Chagnaud, Christophe, Bertucci, François
• Format: Journal Article
• Language: English
• Published: Basel, Switzerland S. Karger AG 01-01-2023; Karger Publishers
• Subjects: bone fibrous dysplasia; Case Report; mazabraud syndrome; mccune-albright syndrome; myxomas; Retracted Paper; Mazabraud syndrome; Myxomas; Bone fibrous dysplasia; McCune-albright syndrome
• ISSN: 1662-6575; 1662-6575
• DOI: 10.1159/000529731

The Mazabraud syndrome is a rare form of bone fibrous dysplasia associated with intramuscular myxomas. The McCune-Albright syndrome is characterized by the association of dysplasia fibrous bone to one or more extra-osseous manifestations, including café-au-lait skin spots and endocrine disturbances. Here, we report on a new case of a 52-year-old man with sacroiliac polyostotic bone fibrous dysplasia associated with intramuscular myxomas of the left buttock and thigh and a café-au-lait skin spot. Biopsy analysis of one muscular lesion on the left thigh analysis revealed a spindle cell tumor with myxoid stroma with
gene mutation, confirming the diagnosis of intramuscular myxoma. Given the absence of radiological sign of malignancy at the bone level and a few pains relieved by simple analgesics, no specific treatment was applied. In March 2022, after 18 months of follow-up, the magnetic resonance imaging and the PET-CT scan showed a stable disease. To our knowledge, this case is the fourth one reporting association of Mazabraud syndrome and McCune-Albright syndrome in a man. The association of intramuscular tumors and bone tumors in the same anatomical region and without any continuity, especially in lower limbs, must evoke the diagnosis of Mazabraud syndrome.