Fibrous dysplasia and cherubism

 

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ABSTRACT

Fibrous dysplasia (FD) is a non-malignant fibro-osseous bony lesion in which the involved bone/bones gradually get converted into expanding cystic and fibrous tissue. The underlying defect in FD is post-natal mutation of GNAS1 gene, which leads to the proliferation and activation of undifferentiated mesenchymal cells arresting the bone development in woven phase and ultimately converting them into fibro-osseous cystic tissue. Cherubism is a hereditary form of fibrous dysplasia in which the causative factor is transmission of autosomal dominant SH3BP2 gene mutation. The disease may present in two distinct forms, a less severe and limited monostotic form, and a more aggressive and more widespread polyostotic form. Polyostotic form may be associated with various endocrine abnormalities, which require active management apart from the management of FD. Management of FD is not free from controversies. While total surgical excision of the involved area and reconstruction using newer micro-vascular technique is the only definitive treatment available from the curative point of view, but this can be only offered to monostotic and very few polyostotic lesions. In polyostotic varieties on many occasions these radical surgeries are very deforming in these slow growing lesions and so their indication is highly debated. The treatment of cranio-facial fibrous dysplasia should be highly individualized, depending on the fact that the clinical behavior of lesion is variable at various ages and in individual patients. A more conservative approach in the form of aesthetic recontouring of deformed bone, orthodontic occlusal correction, and watchful expectancy may be the more accepted form of treatment in young patients. Newer generation real-time imaging guidance during recontouring surgery adds to accuracy and safety of these procedures. Regular clinical and radiological follow up is required to watch for quiescence, regression or reactivation of the disease process. Patients must be warned and watched for any sign of nerve compression, especially visual impairment due to optic nerve compression. Rather than going for prophylactic optic canal decompression (which does more harm than good), optic nerve decompression should be done in symptomatic patients only, and preferably be done via minimal invasive endoscopic neuro-surgical approach than the conventional more morbid open craniotomy approach. There is growing research and possibilities that newer generation bisphosphonate medication may change the management scenario, as these medications show encouraging response in not only reducing the osteoclastic activity, but simultaneously also stimulating the osteoblastic and osteocytic activities. The explosion of genetic research and stem cell therapy may lead to better understanding and subsequently better treatment of FD in future.

• REFERENCES

• 1 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 2015; 15: e6
  PubMedGoogle Scholar
• 2 Lichtenstein L. Diseases of Bone and Joints. 2nd ed. St. Louis: CV Mosby; 1975: p. 244
  Google Scholar
• 3 Greer Jr RO, Rohrer MD, Young SK. Nonodontogenic tumors, clinical evaluation and pathology. In: Thawley SE, Panje WR. editors Comprehensive Management of Head and Neck Tumors. Philadelphia: WB Saunders; 1987: p. 1510
  Google Scholar
• 4 Leong LT, Ming BJ. Craniofacial fibrous dysplasia involving the orbit: A case report and literature review. Asia Pac J Ophthalmol (Phila) 2015; 4: 151-4
  CrossrefPubMedGoogle Scholar
• 5 Mansilla-Lory J, Amezcua-Guerra LM, Vargas-Rodriguez A, Fernadez-Tapia S, Leboreiro I, Resnick D. et al Leontiasis ossea: A paleopathologic case report. J Clin Rheumatol 2007; 13: 269-72
  CrossrefPubMedGoogle Scholar
• 6 Kuznetsov SA, Cherman N, Riminucci M, Collins MT, Robey PG, Bianco P. Age-dependent demise of GNAS-mutated skeletal stem cells and “normalization” of fibrous dysplasia of bone. J Bone Miner Res 2008; 23: 1731-40
  CrossrefPubMedGoogle Scholar
• 7 Matthew RD, William FE. Fibrous dysplasia: Pathophysiology, evaluation, and treatment. J Bone Joint Surg Am 2005; 87: 1848-64
  PubMedGoogle Scholar
• 8 Osada H, Sakamoto R, Seki K, Sekiya S. Accelerated bone turnover in pregnant women with McCune-Albright syndrome. Gynecol Obstet Invest 2005; 60: 102-7
  CrossrefPubMedGoogle Scholar
• 9 Bowers CA, Altay T, Shah L, Couldwell WT. Pregnancy induced cystic degeneration of fibrous dysplasia. Can J Neurol Sci 2012; 39: 828-9
  Google Scholar
• 10 Kaplan FS, Fallon MD, Boden SD, Schimidt R, Senior M, Hadda JG. Estrogen receptors in bone in a patient with polyostotic fibrous dysplasia (McCune-Albright Syndrome). N Engl J Med 1988; 319: 421-5
  CrossrefPubMedGoogle Scholar
• 11 Munksgaard PS, Salkus G, Iyer VV, Fisker RV. Mazabraud’s syndrome: Case report with literature review. Acta Radiol Short Rep 2013; 2: 204
  Google Scholar
• 12 Wirth WA, Leavitt D, Enzinger FM. Multiple intramuscular myxomas. Another extraskeletal manifestation of fibrous dysplasia. Cancer 1971; 27: 1167-73
  CrossrefPubMedGoogle Scholar
• 13 Lichtenstein L, Jaffe HL. Fibrous dysplasia of bone. A condition affecting one, several or many bones, the graver cases of which may present abnormal pigmentation of skin, premature sexual development, hyperthyroidism or still other extraskeletal abnormalities. Arch Pathol 1942; 33: 777-816
  Google Scholar
• 14 Sujatha S, Jatti D. Neurofibromatosis and fibrous dysplasia manifesting in the same patient: A rare case report. J Investig Clin Dent 2015; 6: 77-80
  CrossrefPubMedGoogle Scholar
• 15 Eversole LR, Sabes WR, Rovin S. Fibrous dysplasia: A nosologic problem in the diagnosis of fibro-osseous lesions of the jaws. J Oral Pathol 1972; 1: 189-220
  CrossrefPubMedGoogle Scholar
• 16 Kushare IV, Colo D, Bakhshi H, Dormans JP. Fibrous dysplasia of the proximal femur: Surgical management options and outcomes. J Child Orthop 2014; 8: 505-11
  CrossrefPubMedGoogle Scholar
• 17 Tan YC, Yu CC, Chang CN, Ma L, Chen YR. Optic nerve compression in craniofacial fibrous dysplasia: The role and indications for decompression. Plast Reconstr Surg 2007; 120: 1957-62
  CrossrefPubMedGoogle Scholar
• 18 Laino L, Favia G, Menditti D, De Francesco F, Salerno C, Scivetti M. et al Confocal laser scanning microscopy analysis of 10 cases of craniofacial fibrous dysplasia. Ultrastruct Pathol 2015; 39: 231-4
  CrossrefPubMedGoogle Scholar
• 19 Jaffe HL, Lichtenstein L. Fibrous dysplasia of bone. A condition affecting one, several or many bones, the graver cases of which may present with abnormal pigmentation of skin, premature sexual development, hyperthyroidism or still other extraskeletal abnormalities. Arch Pathol 1942; 33: 777-816
  Google Scholar
• 20 Collins MT, Singer FR, Eugster E. McCune-Albright syndrome and the extraskeletal manifestations of fibrous dysplasia. Orphanet J Rare Dis 2012; 7 Suppl (01) S4
  CrossrefPubMedGoogle Scholar
• 21 Fitzpatrick KA, Taljanovic MS, Speer DP, Graham AR, Jacobson JA, Barnes GR. et al Imaging findings of fibrous dysplasia with histopathologic and intraoperative correlation. AJR Am J Roentgenol 2004; 182: 1389-98
  CrossrefPubMedGoogle Scholar
• 22 Zhibin Y, Quanyong L, Libo C, Jun Z, Hankui L, Jifang Z. et al The role of radionuclide bone scintigraphy in fibrous dysplasia of bone. Clin Nucl Med 2004; 29: 177-80
  CrossrefPubMedGoogle Scholar
• 23 Petrocelli M, Kretschmer W. Conservative treatment and implant rehabilitation of the mandible in a case of craniofacial fibrous dysplasia: A case report. J Oral Maxillofac Surg 2014; 72: 902 e1-6
  PubMedGoogle Scholar
• 24 Mäkitie AA, Törnwall J, Mäkitie O. Bisphosphonate treatment in craniofacial fibrous dysplasia - A case report and review of the literature. Clin Rheumatol 2008; 27: 809-12
  CrossrefPubMedGoogle Scholar
• 25 Egner-Höbarth S, Welkerling H, Windhager R. Bisphosphonates in the therapy of fibrous dysplasia. Relevant data and practical aspects. Orthopade 2007; 36:124: 126-30
  Google Scholar
• 26 Boyce AM, Kelly MH, Brillante BA, Kushner H, Wientroub S, Riminucci M. et al A randomized, double blind, placebo-controlled trial of alendronate treatment for fibrous dysplasia of bone. J Clin Endocrinol Metab 2014; 99: 4133-40
  CrossrefPubMedGoogle Scholar
• 27 Boyce AM, Chong WH, Yao J, Gafni RI, Kelly MH, Chamberlain CE. et al Denosumab treatment for fibrous dysplasia. J Bone Miner Res 2012; 27: 1462-70
  CrossrefPubMedGoogle Scholar
• 28 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: 767-72
  CrossrefPubMedGoogle Scholar
• 29 Ganda K, Seibel MJ. Rapid biochemical response to denosumab in fibrous dysplasia of bone: Report of two cases. Osteoporos Int 2014; 25: 777-82
  CrossrefPubMedGoogle Scholar
• 30 Bowers CA, Taussky P, Couldwell WT. Surgical treatment of craniofacial fibrous dysplasia in adults. Neurosurg Rev 2014; 37: 47-53
  CrossrefPubMedGoogle Scholar
• 31 Lauritzen C, Alberius P, Santanelli F, Vällfors B, Lilja J, Stephensen H. Repositioning of craniofacial tumorous bone after autoclaving. Scand J Plast Reconstr Surg Hand Surg 1991; 25: 161-5
  CrossrefPubMedGoogle Scholar
• 32 Valentini V, Cassoni A, Marianetti TM, Terenzi V, Fadda MT, Iannetti G. Craniomaxillofacial fibrous dysplasia: Conservative treatment or radical surgery? A retrospective study on 68 patients. Plast Reconstr Surg 2009; 123: 653-60
  CrossrefPubMedGoogle Scholar
• 33 Chen YR, Noordhoff MS. Treatment of crani-omaxillofacial fibrous dysplasia: How early and how extensive?. Plast Reconstr Surg 1990; 86: 835-44
  CrossrefPubMedGoogle Scholar
• 34 Amit M, Collins MT, FitzGibbon EJ, Butman JA, Fliss DM, Gil Z. Surgery versus watchful waiting in patients with craniofacial fibrous dysplasia - A meta-analysis. PLoS One 2011; 6: e25179
  CrossrefPubMedGoogle Scholar
• 35 Béquignon E, Cardinne C, Lachiver X, Wagner I, Chabolle F, Baujat B. Craniofacial fibrous dysplasia surgery: A functional approach. Eur Ann Otorhinolaryngol Head Neck Dis 2013; 130: 215-20
  CrossrefPubMedGoogle Scholar
• 36 Menon S, Venkatswamy S, Ramu V, Banu K, Ehtaih S, Kashyap VM. Craniofacial fibrous dysplasia: Surgery and literature review. Ann Maxillofac Surg 2013; 3: 66-71
  CrossrefPubMedGoogle Scholar
• 37 Zeng HF, Lu JJ, Teng L, Jin XL, Xu JJ, Zhang C. et al Surgical treatment of craniomaxillofacial fibrous dysplasia: Functionally or aesthetically?. J Craniofac Surg 2013; 24: 758-62
  CrossrefPubMedGoogle Scholar
• 38 Gui H, Zhang S, Shen SG, Wang X, Bautista JS, Voss PJ. Real-time image-guided recontouring in the management of craniofacial fibrous dysplasia. Oral Surg Oral Med Oral Pathol Oral Radiol 2013; 116: 680-5
  CrossrefPubMedGoogle Scholar
• 39 Yabut Jr SM, Kenan S, Sissons HA, Lewis MM. Malignant transformation of fibrous dysplasia. A case report and review of the literature. Clin Orthop Relat Res 1988; 228: 281-9
  Google Scholar
• 40 Sadeghi SM, Hosseini SN. Spontaneous conversion of fibrous dysplasia into osteosarcoma. J Craniofac Surg 2011; 22: 959-61
  CrossrefPubMedGoogle Scholar
• 41 Park BY, Cheon YW, Kim YO, Pae NS, Lee WJ. Prognosis for craniofacial fibrous dysplasia after incomplete resection: Age and serum alkaline phosphatase. Int J Oral Maxillofac Surg 2010; 39: 221-6
  CrossrefPubMedGoogle Scholar
• 42 Harris WH, Robert Dudley Jr H, Barry RJ. The natural history of fibrous dysplasia. J Bone Joint Surg Am 1962; 44: 207-33
  CrossrefPubMedGoogle Scholar
• 43 Bhattacharyya N, Wiench M, Dumitrescu C, Connolly BM, Bugge TH, Patel HV. et al Mechanism of FGF23 processing in fibrous dysplasia. J Bone Miner Res 2012; 27: 1132-41
  CrossrefPubMedGoogle Scholar
• 44 Robey PG, Kuznetsov S, Riminucci M, Bianco P. The role of stem cells in fibrous dysplasia of bone and the Mccune-Albright syndrome. Pediatr Endocrinol Rev 2007; 4 Suppl (Suppl. 04) 386-94
  PubMedGoogle Scholar
• 45 Choremis K, Papadatos C, Caterellos C. Familial multilocular cystic disease of the jaws. Helv Paediatr Acta 1959; 14: 396-9
  PubMedGoogle Scholar
• 46 Jones WA, Gerrie J, Pritchard J. Cherubism - familial fibrous dysplasia of the jaws. J Bone Joint Surg Br 1950; 32-B: 334-47
  CrossrefPubMedGoogle Scholar
• 47 Irfan S, Cassels-Brown A, Hayward J, Corrigan A. Orbital Cherubism. Orbit 1997; 16: 109-12
  CrossrefGoogle Scholar
• 48 Emoto Y, Emoto H, Fujle W, Wakakura M. Uncorrectable Oblique Astigmatism and Impaired Binocular Vision in Case of Orbital Cherubism. Neuro-ophthalmology 2007; 31: 191-5
  CrossrefGoogle Scholar
• 49 Lenouvel D, Chapireau D, Bentley R. Late reactivation of cherubism in a patient with new-onset polycystic ovary syndrome. J Oral Maxillofac Surg 2015; 73: 1957-61
  CrossrefPubMedGoogle Scholar
• 50 Li CY, Yu SF. A novel mutation in the SH3BP2 gene causes cherubism: Case report. BMC Med Genet 2006; 7: 84
  CrossrefPubMedGoogle Scholar
• 51 Tiziani V, Reichenberger E, Buzzo CL, Niazi S, Fukai N, Stiller M. et al The gene for cherubism maps to chromosome 4p16. Am J Hum Genet 1999; 65: 158-66
  CrossrefPubMedGoogle Scholar
• 52 van Capelle CI, Hogeman PH, van der Sijs-Bos CJ, Heggelman BG, Idowu B, Slootweg PJ. et al Neurofibromatosis presenting with a cherubism phenotype. Eur J Pediatr 2007; 166: 905-9
  CrossrefPubMedGoogle Scholar
• 53 Carroll AL, Sullivan TJ. Orbital involvement in cherubism. Clin Experiment Ophthalmol 2001; 29: 38-40
  CrossrefPubMedGoogle Scholar
• 54 Hero M, Suomalainen A, Hagström J, Stoor P, Kontio R, Alapulli H. et al Anti-tumor necrosis factor treatment in cherubism - clinical, radiological and histological findings in two children. Bone 2013; 52: 347-53
  CrossrefPubMedGoogle Scholar
• 55 Yoshitaka T, Ishida S, Mukai T, Kittaka M, Reichenberger EJ, Ueki Y. Etanercept administration to neonatal SH3BP2 knock-in cherubism mice prevents TNF-α-induced inflammation and bone loss. J Bone Miner Res 2014; 29: 1170-82
  CrossrefPubMedGoogle Scholar
• 56 Fernandes Gomes M, Ferraz de Brito Penna Forte L, Hiraoka CM, Augusto Claro F, Costa Armond M. Clinical and surgical management of an aggressive cherubism treated with autogenous bone graft and calcitonin. ISRN Dent 2011; 2011: 340960
  PubMedGoogle Scholar
• 57 Etoz OA, Dolanmaz D, Gunhan O. Treatment of cherubism with salmon calcitonin: A case report. Eur J Dent 2011; 5: 486-91
  Article in Thieme ConnectPubMedGoogle Scholar