Generic placeholder image

Endocrine, Metabolic & Immune Disorders - Drug Targets

Editor-in-Chief

ISSN (Print): 1871-5303
ISSN (Online): 2212-3873

Case Report

Mazabraud's Syndrome: A Case Report and Up-To-Date Literature Review

Author(s): Fabio Vescini*, Alberto Falchetti, Veronica Tonelli, Maria Carpentieri, Claudia Cipri, Roberta Cosso, Elda Kara, Vincenzo Triggiani and Franco Grimaldi

Volume 19, Issue 6, 2019

Page: [885 - 893] Pages: 9

DOI: 10.2174/1871530319666181226103700

Abstract

Objective: Mazabraud's syndrome is a rare form of bone fibrous dysplasia associated with intramuscular myxomas. Fibrous dysplasia, is generally localized to pelvis and femur and it results in a fragile bone with deformities, pain, pathological fractures and functional impairment. Intramuscular myxomas, are rare benign mesenchymal neoplasms that exceptionally may evolve to malignant forms.

Methods: This case report describes a 66-year-old woman with Mazabraud’s Syndrome (MS), characterized both by monostotic right femur fibrous dysplasia and by a solitary intramuscular myxoma at the right quadriceps muscle, that underwent a long-term treatment (4 years) with intravenous zoledronic acid.

Results: Zoledronic acid therapy rapidly lowered bone pain together with a reduction of intramuscular myxoma volume, but did not affect the extension of fibrous dysplasia. No adverse effects have been observed during treatment.

Conclusion: Highly active bisphosphonates are commonly used for the treatment of bone metabolic disorders and they are generally well tolerated. Zoledronic acid may represent a promising alternative to surgical intervention in MS, although its use in rare form of bone fibrous dysplasias is still controversial.

Keywords: Mazabraud's syndrome, fibrous dysplasia, intramuscular myxoma, zoledronic acid, GNAS1 gene mutations, benign mesenchymal neoplasms.

« Previous
Graphical Abstract
[1]
Henschen, F. Fall von ostitis Fibrosa mit multiplen Tumoren in der umgebenden Muskulatur. Verh. Dtsch. Ges. Pathol., 1926, 21, 93-97.
[2]
Mazabraud, A.; Girard, J. [A peculiar case of fibrous dysplasia with osseous and tendinous localizations] Rev. Rhum. Mal. Osteoartic., 1957, 24(9-10), 652-659.
[PMID: 13518962]
[3]
Enzinger, F.M. Intramuscular myxoma; A review and follow-up study of 34 cases. Am. J. Clin. Pathol., 1965, 43, 104-113.
[http://dx.doi.org/10.1093/ajcp/43.2.104] [PMID: 14253111]
[4]
Yaligod, V. M, A.S. Intramuscular Myxoma - A Rare Tumor. J. Orthop. Case Rep., 2013, 3(4), 38-41.
[http://dx.doi.org/10.13107/jocr.2250-0685.130] [PMID: 27298930]
[5]
Miettinen, M.; Höckerstedt, K.; Reitamo, J.; Tötterman, S. Intramuscular myxoma--a clinicopathological study of twenty-three cases. Am. J. Clin. Pathol., 1985, 84(3), 265-272.
[http://dx.doi.org/10.1093/ajcp/84.3.265] [PMID: 4036856]
[6]
Zoccali, C.; Teori, G.; Prencipe, U.; Erba, F. Mazabraud’s syndrome: A new case and review of the literature. Int. Orthop., 2009, 33(3), 605-610.
[http://dx.doi.org/10.1007/s00264-007-0483-x] [PMID: 18214477]
[7]
Fu, S.; Tian, Z.; Zhang, C.; He, Y. Monosotic fibrous dysplasia and solitary intramuscular myxoma of the head and neck: A unique presentation of Mazabraud’s syndrome and a literature review. Oncol. Lett., 2015, 10(5), 3087-3094.
[http://dx.doi.org/10.3892/ol.2015.3633] [PMID: 26722294]
[8]
Tabareau-Delalande, F.; Collin, C.; Gomez-Brouchet, A.; Decouvelaere, A.V.; Bouvier, C.; Larousserie, F.; Marie, B.; Delfour, C.; Aubert, S.; Rosset, P.; de Muret, A.; Pagès, J.C.; de Pinieux, G. Diagnostic value of investigating GNAS mutations in fibro-osseous lesions: a retrospective study of 91 cases of fibrous dysplasia and 40 other fibro-osseous lesions. Mod. Pathol., 2013, 26(7), 911-921.
[http://dx.doi.org/10.1038/modpathol.2012.223] [PMID: 23370769]
[9]
Cox, J.L.; Cushman-Vokoun, A.M.; McGarry, S.V.; Kozel, J.A. Two cases of Mazabraud syndrome and identification of a GNAS R201H mutation by next-generation sequencing. Virchows Arch., 2017, 470(5), 589-593.
[http://dx.doi.org/10.1007/s00428-017-2100-8] [PMID: 28258512]
[10]
Dal Cin, P.; Sciot, R.; Brys, P.; De Wever, I.; Dorfman, H.; Fletcher, C.D.; Jonsson, K.; Mandahl, N.; Mertens, F.; Mitelman, F.; Rosai, J.; Rydholm, A.; Samson, I.; Tallini, G.; Van den Berghe, H.; Vanni, R.; Willen, H. Recurrent chromosome aberrations in fibrous dysplasia of the bone: A report of the CHAMP study group. CHromosomes And MorPhology. Cancer Genet. Cytogenet., 2000, 122(1), 30-32.
[http://dx.doi.org/10.1016/S0165-4608(00)00270-3] [PMID: 11104029]
[11]
Beyer Nardi, N.; da Silva Meirelles, L. Mesenchymal stem cells: Isolation, in vitro expansion and characterization. In Wobus, A. M.; Boheler, K. Stem Cells. Handbook of Experimental Pharmacology, 2006, 174, 249-82
[12]
Iwasko, N.; Steinbach, L.S.; Disler, D.; Pathria, M.; Hottya, G.A.; Kattapuram, S.; Varma, D.G.; Kumar, R. Imaging findings in Mazabraud’s syndrome: seven new cases. Skeletal Radiol., 2002, 31(2), 81-87.
[http://dx.doi.org/10.1007/s00256-001-0453-0] [PMID: 11828328]
[13]
Muthusamy, S.; Conway, S.A.; Temple, H.T. Five polyostotic conditions that general orthopedic surgeons should recognize (or should not miss). Orthop. Clin. North Am., 2014, 45(3), 417-429.
[http://dx.doi.org/10.1016/j.ocl.2014.04.004] [PMID: 24975767]
[14]
O’Sullivan, G.J.; Carty, F.L.; Cronin, C.G. Imaging of bone metastasis: An update. World J. Radiol., 2015, 7(8), 202-211.
[http://dx.doi.org/10.4329/wjr.v7.i8.202] [PMID: 26339464]
[15]
Prada, E.J.; Hassan, K.H.; Brandi, M.L.; Falchetti, A. Polyostotic form of fibrous dysplasia in a 13 years old Colombian girl showing clinical and biochemical response to neridronate intravenous therapy. Clin. Cases Miner. Bone Metab., 2009, 6(3), 264-265.
[PMID: 22461257]
[16]
Bancroft, L.W.; Kransdorf, M.J.; Menke, D.M.; O’Connor, M.I.; Foster, W.C. Intramuscular myxoma: characteristic MR imaging features. AJR Am. J. Roentgenol., 2002, 178(5), 1255-1259.
[http://dx.doi.org/10.2214/ajr.178.5.1781255] [PMID: 11959742]
[17]
Luckman, S.P.; Hughes, D.E.; Coxon, F.P.; Graham, R.; Russell, G.; Rogers, M.J. Nitrogen-containing bisphosphonates inhibit the mevalonate pathway and prevent post-translational prenylation of GTP-binding proteins, including Ras. J. Bone Miner. Res., 1998, 13(4), 581-589.
[http://dx.doi.org/10.1359/jbmr.1998.13.4.581] [PMID: 9556058]
[18]
Liens, D.; Delmas, P.D.; Meunier, P.J. Long-term effects of intravenous pamidronate in fibrous dysplasia of bone. Lancet, 1994, 343(8903), 953-954.
[http://dx.doi.org/10.1016/S0140-6736(94)90069-8] [PMID: 7909013]
[19]
Ozdemir Kutbay, N.; Sarer Yurekli, B.; Kartal Baykan, E.; Baydur Sahin, S.; Saygili, F. Characteristics and Treatment Results of 5 Patients with Fi-brous Dysplasia and Review of the Literature. Case Rep. Endocrinol., 2015, 670809, 7.
[20]
Majoor, B.C.; Appelman-Dijkstra, N.M.; Fiocco, M.; van de Sande, M.A.; Dijkstra, P.S.; Hamdy, N.A. Outcome of Long-Term Bisphosphonate Therapy in McCune-Albright Syndrome and Polyostotic Fibrous Dysplasia. J. Bone Miner. Res., 2017, 32(2), 264-276.
[http://dx.doi.org/10.1002/jbmr.2999] [PMID: 27649526]
[21]
Szymanski, C.; Bourgault, C.; Penel, N.; Maynou, C. Chondrosarcoma of the femur in Mazabraud’s syndrome: A first case study. Orthop. Traumatol. Surg. Res., 2015, 101(7), 875-878.
[http://dx.doi.org/10.1016/j.otsr.2015.07.020] [PMID: 26498883]
[22]
Lane, J.M.; Khan, S.N.; O’Connor, W.J.; Nydick, M.; Hommen, J.P.; Schneider, R.; Tomin, E.; Brand, J.; Curtin, J. Bisphosphonate therapy in fibrous dysplasia. Clin. Orthop. Relat. Res., 2001, (382), 6-12.
[http://dx.doi.org/10.1097/00003086-200101000-00003] [PMID: 11154006]
[23]
Wu, D.; Ma, J.; Bao, S.; Guan, H. Continuous effect with long-term safety in zoledronic acid therapy for polyostotic fibrous dysplasia with severe bone destruction. Rheumatol. Int., 2015, 35(4), 767-772.
[http://dx.doi.org/10.1007/s00296-014-3132-x] [PMID: 25230905]

© 2024 Bentham Science Publishers | Privacy Policy