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Abstract
Fibrous dysplasia is a benign bone pathology caused by a genetic abnormality of the GNSA1 gene. It is characterized by the replacement of normal bone tissue by fibrous tissue. It presents in two modalities; monostotic affecting a single bone and polyostotic affecting multiple bones with a predilection for long bones and craniofacial bones. The clinical presentation and manifestation is variable and depends on the location and extent of the skeletal lesions; it ranges from incidental solitary lesions with no clinical relevance, to severe disease associated with deformity, fractures, pain and functional impairment. Bone pathology may occur in isolation or in association with endocrine manifestations. McCune-Albright syndrome is characterized by the triad of polyostotic fibrous dysplasia, precocious puberty and café-au-lait spots. Diagnosis is based on clinical, radiological and histopathological features and in most cases, the diagnosis can be clinical by adequate evaluation of skeletal, endocrine and dermatological features. Treatment can be medical or surgical, depending on the severity of the clinical presentation and in severe cases multidisciplinary management is required. Surgical management includes multiple modalities and aims to prevent, manage fractures and minimize deformities.
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References
Adetayo OA, Salcedo SE, Borad V, Richards SS, Workman AD, Ray AO. Fibrous dysplasia: an overview of disease process, indications for surgical management, and a case report. Eplasty [Internet]. 2015;15:e6. Available from: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4347360/
Dicaprio M, Enneking W. Fibrous Dysplasia: Pathophysiology, evaluation and treatment. JB&JS [Internet]. Agust 2015;87-A(8). Available from: https://journals.lww.com/jbjsjournal/Abstract/2005/08000/Fibrous_Dysplasia__Pathophysiology,_Evaluation,.28.aspx
Spencer T, Pan KS, Collins MT, Boyce AM. The Clinical Spectrum of McCune-Albright Syndrome and Its Management. Horm Res Paediatr. [Internet]. 2019;92(6):347–56. Available from: https://www.karger.com/Article/Fulltext/504802
Tafti D, Cecava ND. Fibrous Dysplasia [Internet]. PubMed. Treasure Island (FL): StatPearls [Internet]. Publishing; 2020. Available from: https://www.ncbi.nlm.nih.gov/books/NBK532947/
Yang L, Wu H, Lu J, Teng L. Prevalence of Different Forms and Involved Bones of Craniofacial Fibrous Dysplasia. J Craniofac Surg [Internet]. 2017 Jan;28(1):21-25. doi: https://doi.org/10.1097/SCS.0000000000002830
Favus MJ, Vokes TJ. Paget’s Disease and Other Dysplasias of Bone [Internet]. 20th ed. Jameson JL, Fauci AS, Kasper DL, Hauser SL, Longo DL, Loscalzo J, editors. Access Medicine. New York, NY: McGraw-Hill Education [Internet].; 2018 [cited May 19, 2022]. Available from: https://accessmedicine.mhmedical.com/content.aspx?bookid=2129§ionid=192530772
Fontes TDS, Cavalieri C, Brennan PA, Paiva P, Santiago R. Fibrous dysplasia of the jaws: Integrating molecular pathogenesis with clinical, radiological, and histopathological features. J Oral Pathol Med [Internet]. 2019 Jan 1 [cited May 19, 2022];48(1):3–9. Available from: https://pubmed.ncbi.nlm.nih.gov/30376190/
Boyce AM. Fibrous Dysplasia. Feingold KR, Anawalt B, Boyce A, Chrousos G, de Herder WW, Dhatariya K, et al., editors. PubMed. South Dartmouth (MA): MDText.com, Inc [Internet]. 2019. Available from: https://www.ncbi.nlm.nih.gov/books/NBK326740/
Hartley I, Zhadina M, Collins MT, Boyce AM. Fibrous Dysplasia of Bone and McCune–Albright Syndrome: A Bench to Bedside Review. Calcif Tissue Int [Internet]. 2019 Apr 29 [cited Nov 28, 2019];104(5):517–29. Available from: https://link.springer.com/article/10.1007/s00223-019-00550-z
Boyce AM, Florenzano P, Castro L, Collins MT. Fibrous Dysplasia/McCune-Albright Syndrome [Internet]. Nih.gov. University of Washington, Seattle; 2019 [cited Nov 28 2019]. Available from: https://www.ncbi.nlm.nih.gov/books/NBK274564/
Ippolito E, Farsetti P, Boyce AM, Corsi A, De Maio F, Collins MT. Radiographic Classification of Coronal Plane Femoral Deformities in Polyostotic Fibrous Dysplasia. Clin Orthop Relat Res [Internet]. 2014 May;472(5):1558–67. Available from: https://link.springer.com/article/10.1007/s11999-013-3380-1
Leet AI, Chebli C, Kushner H, Chen CC, Kelly MH, Brillante BA, et al. Fracture Incidence in Polyostotic Fibrous Dysplasia and the McCune-Albright Syndrome. J Bone Miner Res [Internet]. 2004 Dec 22;19(4):571–7. Available from: https://asbmr.onlinelibrary.wiley.com/doi/full/10.1359/JBMR.0301262
Holbrook L, Brady R. McCune Albright Syndrome [Internet]. PubMed. Treasure Island (FL): StatPearls [Internet]. 2021 [cited 2021 Aug 16]. Available from: https://www.ncbi.nlm.nih.gov/books/NBK537092/
Robinson C, Collins MT, Boyce AM. Fibrous Dysplasia/McCune-Albright Syndrome: Clinical and Translational Perspectives. Curr Osteoporos Rep [Internet]. 2016 Aug 4;14(5):178–86. Available from: https://link.springer.com/article/10.1007/s11914-016-0317-0
Javaid MK, Boyce A, Appelman-Dijkstra N, Ong J, Defabianis P, Offiah A, et al. Best practice management guidelines for fibrous dysplasia/McCune-Albright syndrome: a consensus statement from the FD/MAS international consortium. Orphanet Journal of Rare Diseases [Internet]. 2019 Jun 13;14(1). Available from: https://ojrd.biomedcentral.com/articles/10.1186/s13023-019-1102-9
Akasbi N, Abourazzak FE, Talbi S, Tahiri L, Harzy T. La dysplasie fibreuse: état des lieux. Pan Afr Med J [Internet]. 2015 [cited 2022 May 19];21. Available from: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4561161/
Keijser LCM, van Tienen TG, Schreuder HWB, Lemmens JAM, Pruszczynski M, Veth RPH. Fibrous dysplasia of bone: Management and outcome of 20 cases. J. Surg Oncol [Internet]. 2001;76(3):157–66. Available from: https://onlinelibrary.wiley.com/doi/10.1002/jso.1028
Stanton RP. Surgery for Fibrous Dysplasia. J Bone Miner Res [Internet]. 2006 Dec;21(S2):P105–9. Available from: https://asbmr.onlinelibrary.wiley.com/doi/full/10.1359/jbmr.06s220
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