Displasia fibrosa poliostótica - síndrome de McCune-Albright: Reporte de un caso

Tomás Rienzi; Claudio Silveri; Mariana Risso; Beatriz Mendoza; Gottardo Bianchi

doi:10.29193/RMU.37.1.12

Authors

Tomás Rienzi Centro Hospitalario Pereira Rosssell, Clínica Traumatología y Ortopedia, Médico residente
Claudio Silveri Centro Hospitalario Pereira Rosssell, Clínica Traumatología y Ortopedia, Profesor adjunto
Mariana Risso Universidad de la República, Facultad de Medicina, Clínica de Endocrinología y Metabolismo, Médico residente
Beatriz Mendoza Universidad de la República, Facultad de Medicina, Clínica de Endocrinología y Metabolismo, Profesora
Gottardo Bianchi Centro Hospitalario Pereira Rosssell, Clínica Traumatología y Ortopedia, Médico residente

DOI:

https://doi.org/10.29193/RMU.37.1.12

Keywords:

POLYOSTOTIC FIBROUS DYSPLASIA, MCCUNE-ALBRIGHT SYNDROME, PERIPHERAL PRECOCIOUS PUBERTY

Abstract

Introduction: polyostotic fibrous dysplasia is a low prevalence disease, and for this reason, it often goes undetected. When associated to endocrinopathies and/or hyperpigmented skin lesions we speak about McCune Albright syndrome.
Clinical case: eight-year old school girl who presented pathological fracture of the left femur, which was diagnosed as polyostotic fibrous dysplasia. As it was accompanied by peripheral precocious puberty it constituted an indicative clinical picture of the so-called McCune Albright. Control and treatment were multidisciplinary. The traumatology team performed osteosynthesis with plaques and nails to fix the bone lesion, and evolution consolidated in a regular time frame (3 months). Upon six months follow-up, the girl has no pain and presents no functional repercussion in daily life. From the endocrinological perspective, the girl received precocious puberty treatment with aromatase inhibitors with the purpose of improving her final size and avoid psychological and emotional implications.
The study presents the characteristics of this condition, as well as its vital and functional prognosis.

References

1) Chapurlat R, Meunier P. Fibrous dysplasia of bone. Baillieres Best Pract Res Clin Rheumatol 2000; 14(2):385-98. doi: 10.1053/berh.1999.0071
2) Santini-Araujo E, Kalil R, Bertoni F, Park Y. Tumors and tumor-like lesions of bone. Basel: Springer Nature, 2020.
3) Chapurlat R, Orcel P. Fibrous dysplasia of bone and McCune-Albright syndrome. Best Pract Res Clin Rheumatol 2008; 22(1):55-69. doi:10.1016/j.berh.2007.11.004
4) Dumitrescu C, Collins M. McCune-Albright syndrome. Orphanet J Rare Dis 2008; 3:12. doi: 10.1186/ 1750-1172-3-12
5) Temboury Molina M. Desarrollo puberal normal: pubertad precoz. Rev Pediatr Aten Primaria 2009; 11(Supl 16):127-42.
6) Boyce A, Chong W, Yao J, Gafni R, Kelly M, Chamberlain C, et al. Denosumab treatment for fibrous dysplasia. J Bone Miner Res 2012; 27(7):1462-70. doi: 10.1002/j bmr.1603
7) Lovy A, Dowdell J, Keswani A, Koehler S, Kim J, Weinfeld S, et al. Nonoperative Versus Operative Treatment of Displaced Ankle Fractures in Diabetics. Foot Ankle Int 2017; 38(3):255-60. doi: 10.1177/1071100716678796
8) Weinstein LS. Activating mutations of the stimulatory G protein in the McCune- Albright syndrome. N Engl J Med 1991;325:1688-95.
9) Ruggieri P, Sim F, Bond J, Unni K. Malignancies in fibrous dysplasia. Cancer 1994; 73(5):1411-24.
10) Collins M, Singer F, Eugster E. McCune-Albright syndrome and the extraskeletal manifestations of fibrous dysplasia. Orphanet J Rare Dis 2012; 7(Suppl 1):S4. doi: 10.1186/ 1750-1172-7-S1-S4
11) Schwindinger W, Francomano C, Levine M. Identification of a mutation in the gene encoding the alpha subunit of the stimulatory G protein of adenylyl cyclase in McCune-Albright syndrome. Proc Natl Acad Sci U S A 1992; 89(11):5152-6. doi: 10.1073/pnas.89.11.5152
12) Celi F, Coppotelli G, Chidakel A, Kelly M, Brillante B, Shawker T, et al. The role of type 1 and type 2 5’-deiodinase in the pathophysiology of the 3,5,3’-triiodothyronine toxicosis of McCune-Albright syndrome. J Clin Endocrinol Metab 2008; 93(6):2383-9. doi: 10.1210/jc.2007-2237
13) Carpenter T, Imel E, Holm I, Jan de Beur S, Insogna K. A clinician’s guide to X-linked hypophosphatemia. J Bone Miner Res 2011; 26(7):1381-8. doi: 10.1002/jbmr.340
14) Ippolito E, Valentini M, Lala R, De Maio F, Sorge R, Farsetti P. Changing pattern of femoral deformity during growth in polyostotic fibrous dysplasia of the bone: an analysis of 46 cases. J Pediatr Orthop 2016; 36(5):488-93. doi: 10.1097/ BPO.0000000000000473
15) Leet A, Chebli C, Kushner H, Chen C, Kelly M, Brillante B, et al. Fracture incidence in polyostotic fibrous dysplasia and the McCune-Albright syndrome. J Bone Miner Res 2004; 19(4):571-7. doi: 10.1359/JBMR.0301262
16) Chapurlat R, Delmas P, Liens D, Meunier P. Long-term effects of intravenous pamidronate in fibrous dysplasia of bone. J Bone Miner Res 1997; 12(10):1746-52. doi: 10.1359/jbmr.1997.12.10.1746
17) Lala R, Matarazzo P, Bertelloni S, Buzi F, Rigon F, de Sanctis C. Pamidronate treatment of bone fibrous dysplasia in nine children with McCune-Albright syndrome. Acta Paediatr 2000; 89(2):188-93. doi: 10.1080/080352500750028816
18) Isaia G, Lala R, Defilippi C, Matarazzo P, Andreo M, Roggia C, et al. Bone turnover in children and adolescents with McCune-Albright syndrome treated with pamidronate for bone fibrous dysplasia. Calcif Tissue Int 2002; 71(2):121-8. doi: 10.1007/s00223-001-1098-7
19) Leet A, Boyce A, Ibrahim K, Wientroub S, Kushner H, Collins M. Bone-Grafting in Polyostotic Fibrous Dysplasia. J Bone Joint Surg Am 2016; 98(3):211-9. doi: 10.2106/JBJS.O.00547
20) Perea-Tortosa D, García-López A, Saura-Sánchez E, Aguirre-Pastor A. Treatment of fibrous dysplasia of the proximal femur by means of pedicled iliac crest bone graft: a case report. Microsurgery 2011; 31(1):56-8. doi: 10.1002/micr.20830
21) Feuillan P, Calis K, Hill S, Shawker T, Robey P, Collins M. Letrozole treatment of precocious puberty in girls with the McCune-Albright syndrome: a pilot study. J Clin Endocrinol Metab 2007; 92(6):2100-6. doi: 10.1210/jc.2006-2350