Multiple intramuscular myxomas.Another extraskeletal manifestation of fibrous dysplasia

Wirth, W.; Leavitt, David; Enzinger, Franz M.

doi:10.1002/1097-0142(197105)27:5<1167::aid-cncr2820270523>3.0.co;2-z

Cited by 122 publications

(34 citation statements)

References 4 publications

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“…The implication of the association of IM with FD has not been made clear. Some authors have speculated the possibility of an underlying localized metabolic error in both tissues [30]. Recent molecular analyses have suggested that mutations of Gsα protein are implicated in the development of multiple endocrinopathies of MAS, and possibly in the development of FD of bone [5,16,19,[21][22][23]28].…”

Section: Discussionmentioning

confidence: 63%

“…That means the diversity in the clinical findings of disorders caused by the Gsα mutation lies at the site and time when the mutation occurs during development. Wirth et al pointed out that IM in a patient with Mazabraud's syndrome was first noticed years or even decades later than FD [30]. We speculate that the mutation may be a later event in IM than in FD.…”

Section: Discussionmentioning

confidence: 99%

“…Mazabraud's syndrome is known as a rare disorder with both multiple IMs and polyostotic FD and occasionally involves some of the context of MAS [1,3,15,30]. To our knowledge, there have been no investigations aimed at determining whether IM arising in Mazabraud's syndrome is related to the same Gsα gene mutation.…”

Section: Introductionmentioning

confidence: 99%

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Activating Gsα mutation in intramuscular myxomas with and without fibrous dysplasia of bone

Okamoto¹,

Hisaoka²,

Ushijima

et al. 2000

Virchows Archiv

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Activating missense mutations in the Arg 201 codon of the gene encoding the alpha subunit of Gs, the G protein that stimulates cAMP formation, have been recognized as the cause of many endocrine diseases, McCune-Albright syndrome and isolated fibrous dysplasia of bone. On the other hand, intramuscular myxomas with fibrous dysplasia, so-called Mazabraud's syndrome, have been sporadically reported, but it has not been confirmed whether intramuscular myxoma, with or without fibrous dysplasia, is associated with the Gs(alpha) mutations. We investigated the presence of the Gs(alpha) mutations in intramuscular myxomas with or without fibrous dysplasia by a PCR-SSCP assay, using formalin-fixed, paraffin-embedded tissues. In five of the six intramuscular myxomas (three with and two without fibrous dysplasia), point mutations were detected as aberrant bands by SSCP, which were confirmed by a subsequent sequence analysis (three Arg to His and two Arg to Cys). This result suggests that the Gs(alpha) mutations are related to tumorigenesis in intramuscular myxoma and that intramuscular myxoma is one of the diseases induced by abnormal Gs(alpha) protein.

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Section: Discussionmentioning

confidence: 63%

Section: Discussionmentioning

confidence: 99%

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Activating Gsα mutation in intramuscular myxomas with and without fibrous dysplasia of bone

Okamoto¹,

Hisaoka²,

Ushijima

et al. 2000

Virchows Archiv

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“…Multiple intramuscular myxomas may be associated with fibrous dysplasia in Albright's syndrome or Mazabraud's syndrome [2,7,23,29,44,47]. Mazabraud's syndrome consists of multiple intramuscular myxomas and fibrous dysplasia.…”

Section: Discussion and Treatmentmentioning

confidence: 99%

Buttock Mass in a 46-year-old Woman

King¹,

Friedman²,

Iwenofu³

et al. 2008

Clin Orthop Relat Res

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“…In addition, it may occur in association with distinct café-au-lait skin spots and/or a number of hyperfunctioning endocrinopathies labeled as McCune-Albright syndrome (MAS). In addition, FD may occur in association with intramuscular myxomas, which is referred to as Mazabraud's syndrome (5,6). It has been reported that the monostotic form is 8-10 times more common than the polyostotic form (7).…”

Section: Introductionmentioning

confidence: 99%

Intramedullary nailing for fibrous dysplasia of lower limbs

et al. 2012

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Abstract. Fibrous dysplasia (FD) of the bone is rare and self-limiting. However, lesion expansion may occur, causing pain, deformity and pathological fracture, in which case surgery is occasionally required. Indicators of FD have not been previously described, although there are several surgical procedures reported (curettage, curettage and graft, and internal fixation). In this study we discuss whether intramedullary nailing of these lesions could result in more favorable outcomes in correcting deformities, including the prevention of secondary fractures and maintenance of the bone, compared to other internal fixation methods. A total of 39 patients with FD of the bone treated with intramedullary nailing were retrospectively analyzed. The surgical procedures involved curettage, grafting and intramedullary nailing. No infection, thromboembolism or other notable complications occurred. The patients resumed full activities of daily living. At the last follow-up, 33 patients presented no pain and seven patients had occasional mild pain. The clinical score according to the modified criteria of Guille improved from an average of 4.4 points prior to surgery to an average of 8 points following surgery. The neck shaft angle of the femur improved from an average of 90˚ prior to surgery to 125˚ following surgery. Intramedullary nailing may be used to correct deformity and prevent pain and refracture in FD of the bone of the lower limbs with large lesions, pathological fracture or deformities. All patients were allowed full athletic recovery following surgery.

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Multiple intramuscular myxomas.Another extraskeletal manifestation of fibrous dysplasia

Cited by 122 publications

References 4 publications

Activating Gsα mutation in intramuscular myxomas with and without fibrous dysplasia of bone

Activating Gsα mutation in intramuscular myxomas with and without fibrous dysplasia of bone

Buttock Mass in a 46-year-old Woman

Intramedullary nailing for fibrous dysplasia of lower limbs

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