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

Int Orthop. 2009 Jun;33(3):605-10. doi: 10.1007/s00264-007-0483-x. Epub 2008 Jan 24.

Abstract

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.

L’association entre un myxome musculaire et une dysplasie fibreuse est rare (Mazabraud, 3 à 6). Nous avons rapporté le cas d’une femme de 32 ans présentant un myxome musculaire multiple, au niveau de la cuisse droite et une atteinte de dysplasie fibreuse. La revue de la littérature internationale permet de rapporter 67 cas caractérisant une telle symptomatologie. Les femmes sont atteintes deux fois plus fréquemment que les hommes et les membres inférieurs également (la dysplasie fibreuse est fréquente au niveau du fémur et du bassin). Le myxome musculaire étant surtout localisé au niveau du quadriceps. Ces myxomes présentent généralement des lésions multiples dans 70% des cas. Si on ne peut pas mettre en évidence de continuité entre ces deux tumeurs, leur association existe néanmoins.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Adult
  • Biomarkers, Tumor / metabolism
  • Female
  • Fibrous Dysplasia, Monostotic / complications*
  • Fibrous Dysplasia, Monostotic / diagnosis
  • Fibrous Dysplasia, Monostotic / surgery
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Muscle Neoplasms / complications*
  • Muscle Neoplasms / diagnosis
  • Muscle Neoplasms / surgery
  • Myxoma / complications*
  • Myxoma / diagnosis
  • Myxoma / surgery
  • Positron-Emission Tomography
  • S100 Proteins / metabolism
  • Syndrome
  • Thigh

Substances

  • Biomarkers, Tumor
  • S100 Proteins