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McCune-Albright syndrome with acromegaly: A case report with characteristic radiographic features of fibrous dysplasia

  • Han-Gyeol, Yeom (Department of Oral and Maxillofacial Radiology and Wonkwang Dental Research Institute, College of Dentistry, Wonkwang University) ;
  • Byung-Do, Lee (Department of Oral and Maxillofacial Radiology and Wonkwang Dental Research Institute, College of Dentistry, Wonkwang University)
  • Received : 2022.08.25
  • Accepted : 2022.09.22
  • Published : 2022.12.31

Abstract

McCune-Albright syndrome (MAS) is a rare multisystem disorder characterized by a clinical triad of polyostotic fibrous dysplasia (FD), skin pigmentation, and hyperfunctioning endocrinopathies. A 42-year-old man visited our medical hospital for the treatment of intermittent headaches and was diagnosed with MAS with acromegaly. This patient showed various clinical features of MAS, including pituitary adenoma, polyostotic FD, and hypogonadotropic hypogonadism. The FD lesions showed characteristic radiographic features, such as widespread, sclerotic bony lesions in the cranial bones, mixed radiolucent-radiopaque multilocular lesions in the mandible, and radiolucent lesions in the axial and appendicular skeleton. Over the years, the patient had been hospitalized multiple times due to accidental bony fractures associated with the fragile bony state of FD. This report presents a retrospective description of a case of MAS, with a review of the relevant literature.

Keywords

Acknowledgement

The authors thank Prof. Choi Si-Sung (MD) and Prof. Lee Young-Jin (MD) for their insightful comments.

References

  1. McCune DJ. Osteitis fibrosa cystica: The case of a 9-year-old girl who also exhibits precocious puberty, multiple pigmentation of the skin and hyperthyroidism. Am J Dis Child 1936; 52: 743-4.
  2. Albright F, Butler AM, Hampton AO, Smith P. Syndrome characterized by osteitis fibrosa disseminata, areas of pigmentation and endocrine dysfunction, with precocious puberty in females - report of five cases. N Engl J Med 1937; 216: 727-46. https://doi.org/10.1056/NEJM193704292161701
  3. Spencer T, Pan KS, Collins MT, Boyce AM. The clinical spectrum of McCune-Albright syndrome and its management. Horm Res Paediatr 2019; 92: 347-56.
  4. Takayasu S, Makita K, Kageyama K, Okawa Y, Oki Y, Yamagata S, et al. Presence of aberrant adrenocorticotropic hormone precursors in two cases of McCune-Albright syndrome. Endocr J 2020; 67: 353-9. https://doi.org/10.1210/endo-67-3-353
  5. Pina Rivera Y, Rwegerera GM, Sesay S. Short stature and growth hormone deficiency: unexpected manifestations of McCune-Albright syndrome. BMJ Case Rep 2018; 2018: bcr2018225709.
  6. 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 J Rare Dis 2019; 14: 139.
  7. Lima-Martinez MM, Gil V, Mederico M, Gomez-Perez R. Hypogonadotropic hypogonadism in a male with McCune-Albright syndrome. Endocrinol Nutr 2013; 60: 145-7. https://doi.org/10.1016/j.endonu.2012.01.023
  8. Akintoye SO, Lee JS, Feimster T, Booher S, Brahim J, Kingman A, et al. Dental characteristics of fibrous dysplasia and McCune-Albright syndrome. Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2003; 96: 275-82. https://doi.org/10.1016/S1079-2104(03)00225-7
  9. Kushchayeva YS, Kushchayev SV, Glushko TY, Tella SH, Teytelboym OM, Collins MT, et al. Fibrous dysplasia for radiologists: beyond ground glass bone matrix. Insights Imaging 2018; 9: 1035-56. https://doi.org/10.1007/s13244-018-0666-6
  10. Coopmans EC, Postma MR, Wolters TL, van Meyel SW, Netea-Maier R, van Beek AP, et al. Predictors for remission after transsphenoidal surgery in acromegaly: a dutch multicenter study. J Clin Endocrinol Metab 2021; 106: 1783-92. https://doi.org/10.1210/clinem/dgab069
  11. Dumitrescu CE, Collins MT. McCune-Albright syndrome. Orphanet J Rare Dis 2008; 3: 12.
  12. Premawardhana LD, Vora JP, Mills R, Scanlon MF. Acromegaly and its treatment in the McCune-Albright syndrome. Clin Endocrinol(Oxf) 1992; 36: 605-8. https://doi.org/10.1111/j.1365-2265.1992.tb02272.x
  13. Collins MT, Singer FR, Eugster E. McCune-Albright syndrome and the extraskeletal manifestations of fibrous dysplasia. Orphanet J Rare Dis 2012; 7 Suppl 1: S4.
  14. Leet AI, Collins MT. Current approach to fibrous dysplasia of bone and McCune-Albright syndrome. J Child Orthop 2007; 1: 3-17. https://doi.org/10.1007/s11832-007-0006-8
  15. Salenave S, Boyce AM, Collins MT, Chanson P. Acromegaly and McCune-Albright syndrome. J Clin Endocrinol Metab 2014; 99: 1955-69. https://doi.org/10.1210/jc.2013-3826
  16. Akintoye SO, Chebli C, Booher S, Feuillan P, Kushner H, Leroith D, et al. Characterization of gsp-mediated growth hormone excess in the context of McCune-Albright syndrome. J Clin Endocrinol Metab 2002; 87: 5104-12. https://doi.org/10.1210/jc.2001-012022
  17. 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. https://doi.org/10.2214/ajr.182.6.1821389
  18. Bousson V, Rey-Jouvin C, Laredo JD, Le Merrer M, Martin-Duverneuil N, Feydy A, et al. Fibrous dysplasia and McCune-Albright syndrome: imaging for positive and differential diagnoses, prognosis, and follow-up guidelines. Eur J Radiol 2014; 83: 1828-42. https://doi.org/10.1016/j.ejrad.2014.06.012
  19. 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. https://doi.org/10.1359/jbmr.080609
  20. Riminucci M, Liu B, Corsi A, Shenker A, Spiegel AM, Robey PG, et al. The histopathology of fibrous dysplasia of bone in patients with activating mutations of the Gs alpha gene: site-specific patterns and recurrent histological hallmarks. J Pathol 1999; 187: 249-58.
  21. Brockmann H, Joe A, Palmedo H, Biersack HJ. A patient with acromegaly presenting with polyostotic fibrous dysplasia on bone scan: McCune-Albright syndrome. Clin Nucl Med 2005; 30: 813-5. https://doi.org/10.1097/01.rlu.0000187612.09377.e0
  22. Reddy R, Hope S, Wass J. Acromegaly. BMJ 2010; 341: c4189.
  23. Weisberg LA, Zimmerman EA, Frantz AG. Diagnosis and evaluation of patients with an enlarged sella turcica. Am J Med 1976; 61: 590-6. https://doi.org/10.1016/0002-9343(76)90136-4
  24. Steinbach HL, Feldman R, Goldberg MB. Acromegaly. Radiology 1959; 72: 535-49. https://doi.org/10.1148/72.4.535
  25. Kwon O, Song YD, Kim SY, Lee EJ, Rare Disease Study Group, Science and Research Committee, Korean Endocrine Society. Nationwide survey of acromegaly in South Korea. Clin Endocrinol(Oxf) 2013; 78: 577-85. https://doi.org/10.1111/cen.12020
  26. Bodakci E, Tuna MM, Kilinc F, Pekkolay Z, Soylu H, Tuzcu SA, et al. A rare cause of acromegaly: McCune-Albright syndrome. Dicle Med J 2015; 42: 242-4.
  27. Swislocki AL, Camargo CA, Hoffman AR. McCune-Albright syndrome. A case of primary hypogonadism obscured by hyperprolactinemic hypogonadotropic hypogonadism. West J Med 1990; 153: 653-6.
  28. Belsuzarri TA, Araujo JF, Melro CA, Neves MW, Navarro JN, Brito LG, et al. McCune-Albright syndrome with craniofacial dysplasia: clinical review and surgical management. Surg Neurol Int 2016; 7(Suppl 6): S165-9.