rare variant of an isolated lesion of the scapula in Paget's diseases (clinical case)
https://doi.org/10.24884/1609-2201-2025-104-1-65-71
Abstract
Paget's disease of bone (osteitis deformans) is a skeletal disease in which foci of destruction of the bone structure occur in one or more bones, followed by its excessive and inadequate replacement. A clinical case is presented with a rare variant of this disease in the form of involvement of the scapula in the pathological process.
About the Authors
V. V. IvanovaRussian Federation
Victoria V. Ivanova, assistant professor of the Department of Hospital Therapy with a Course of Allergology and Immunology; rheumatologist
6–8, L’va Tolstogo str., Saint Petersburg, 197022
O. V. Inamova
Russian Federation
Oksana V. Inamova, associate Professor of the Eikhvald Clinic; Chief physician of the clinic
Saint Petersburg
O. A. Smulskaja
Russian Federation
Olga A. Smulskaja, associate Professor of the department of General Medical practice; rheumatologist
6–8, L’va Tolstogo str., Saint Petersburg, 197022
I. V. Oktiabrskaia
Russian Federation
Irina V. Oktiabrskaia, rheumatologist, head of paid services department
Saint Petersburg
References
1. Clooney G., Wilkinson N. Rheumatology. Oxford Handbook. GEOTARMEDIA. 2022;1088. (In Russ.). https://doi.org/10.33029/9704-6848-7-OSR-2022-1-1088.
2. Rozhinskaya L. Ya. Paget’s disease. Osteoporosis and Bone Diseases. 2007;10(2):29–31. (In Russ.). https://doi.org/10.14341/osteo2007229-31.
3. Gennari L., Rendina D., Merlotti D. et al. Update on the pathogenesis and genetics of Paget’s disease of bone. Front Cell Dev Biol. 2022;10:932065. https://doi.org/10.3389/fcell.2022.932065.
4. Paget J. On a form of chronic inflammation of bone (osteitis deformance). Med Chir Trans. 1877;60:37–64. https://doi.org/10.1177/095952877706000105.
5. Bashkova I. B., Nikolaev N. S., Bezlyudnaya N. V., Kichigin V. A. Diagnostic aspects of Paget’s disease of bone in clinical practice. Rheumatology Science and Practice. 2017;55(6):690–697. (In Russ.). https://doi.org/10.14412/1995-4484-2017-690-697.
6. Banaganapalli B., Fallatah I., Alsubhi F. et al. Paget’s disease: a review of the epidemiology, etiology, genetics, and treatment. Genet. 2023;14:1131182. https://doi.org/10.3389/fgene.2023.1131182. eCollection 2023. PMID: 37180975.
7. Albagha O. M. Genetics of Paget’s disease of bone. Bonekey Rep. 2015;4:756. https://doi.org/10.1038/bonekey.2015.125.
8. Gennari L., Rendina D., Falchetti A., Merlotti D. Paget’s disease of bone. Calcif. Tissue Int. 2019;104:483–500. https://doi.org/10.1007/s00223-019-00522-3.
9. Shaik N. A., Nasser K. K., Alruwaili M. M. et al. Molecular modelling and dynamic simulations of sequestosome 1 (SQSTM1) missense mutations linked to Paget disease of bone. J. Biomol. Struct. Dyn. 2021;39:2873–2884. https://doi.org/10.1080/07391102.2020.1758212.
10. Rea S. L., Walsh J. P., Ward L. et al. Sequestosome 1 mutations in paget’s disease of bone in Australia: Prevalence, genotype/phenotype correlation, and a novel non-UBA domain mutation (P364S) associated with increased NF-kappaB signaling without loss of ubiquitin binding. J. Bone Mineral Res. 2009;24:1216–1223. https://doi.org/10.1359/jbmr.090214.
11. Appelman-Dijkstra N. M., Papapoulos S. E. Рaget's disease of bone. Best. Pract. Res. Clin. Endocrinol. Metab. 2018;32:657–668. https://doi.org/10.1016/j.beem.2018.05.005.
12. Scotto Di Carlo F., Whyte M. P., Gianfrancesco F. The two faces of giant cell tumor of bone. Cancer Lett. 2020;489:1–8. https://doi.org/10.1016/j.canlet.2020.05.031.
13. Hughes A. E., Ralston S. H., Marken J. et al. Mutations in TNFRSF11A, affecting the signal peptide of RANK, cause familial expansile osteolysis. Nat. Genet. 2020;24:45–48. https://doi.org/10.1038/71667.
14. Korsakova Y. L. Paget’s disease: Current treatment modalities. Sovremennaya Revmatologiya=Modern Rheumatology Journal. 2010;4(2):11–17. (In Russ.). https://doi.org/10.14412/1996-7012-2010-596.
15. Singer F. R., Bone H. G., Hosking D. J. et al. Paget’s disease of bone: an endocrine society clinical practice guideline. J Clin Endocrinol Metab. 2014;99(12):4408–22. https://doi.org/10.1210/jc.2014-2910.
16. Charles J. F. Paget Disease of Bone. MSD Manual. 2023. https://doi.org/10.1002/9781119266594.ch92.
17. Ralston S. H., Corral-Gudino L., Cooper C. et al. Diagnosis and Management of Paget’s Disease of Bone in Adults: A Clinical Guideline. J Bone Miner Res. 2019;34(4):579–604. https://doi.org/10.1002/jbmr.3657.
Review
For citations:
Ivanova V.V., Inamova O.V., Smulskaja O.A., Oktiabrskaia I.V. rare variant of an isolated lesion of the scapula in Paget's diseases (clinical case). New St. Petersburg Medical Records. 2025;(1):65-71. (In Russ.) https://doi.org/10.24884/1609-2201-2025-104-1-65-71