Adhesive capsulitis in a patient affected by KBG Syndrome

Adhesive capsulitis in a patient affected by KBG Syndrome

Authors

  • Giulio Edoardo Vigni Department of Shoulder Surgery Giovanni XIII Hospital Papa Giovanni XXIII Street, 31050 Monastier di Treviso, TV; Department of Orthopaedics and Traumatology, University of Palermo Via del Vespro, 90100 Palermo, Italy
  • Andrea Tomasi Department of Shoulder Surgery Giovanni XIII Hospital Papa Giovanni XXIII Street, 31050 Monastier di Treviso, TV
  • Giacomo Sabbioni Department of Shoulder Surgery Giovanni XIII Hospital Papa Giovanni XXIII Street, 31050 Monastier di Treviso, TV
  • Federico Fazzari Department of Shoulder Surgery Giovanni XIII Hospital Papa Giovanni XXIII Street, 31050 Monastier di Treviso, TV; Department of pathology and surgery, University Insubria Varese; Italy
  • Michele Francesco Surace Department of pathology and surgery, University Insubria Varese; Italy
  • Lawrence Camarda Department of Orthopaedics and Traumatology, University of Palermo Via del Vespro, 90100 Palermo, Italy
  • Enrico Gervasi Department of Shoulder Surgery Giovanni XIII Hospital Papa Giovanni XXIII Street, 31050 Monastier di Treviso, TV

Keywords:

KBG syndrome, shoulder, Orthopedics, Keloid

Abstract

Background and Case presentation

KBG syndrome is a multiple congenital anomaly syndrome with variable presentation. Many physical anomalies also affect the orthopaedic field. We present a case of a young woman with diagnosis of KBG syndrome that is also affected by joint stiffness and adhesive capsulitis to the shoulders.

Discussion

Many other cases have been reported to present joint stiffness and formation of keloids. Adhesive capsulitis is known to be related to autoimmune pathologies and endocrinological disorders. KBG syndrome is caused by heterozygous mutation in ANKRD11 gene and few patients with hypermobility of the joints have also been reported.

Conclusions

The KBG syndrome might present a risk factor for adhesive capsulitis of the shoulder and joint stiffness in general. Moreover, the tendency to the formation of keloids and sporadic cases of hypermobility might suggest a connective tissue involvement in different gene deletions.

References

Morel Swols D, Foster J 2nd, Tekin M. KBG syndrome. Orphanet J Rare Dis. 2017 Dec 19;12(1):183. doi: 10.1186/s13023-017-0736-8. PMID: 29258554; PMCID: PMC5735576.

Low K, Ashraf T, Canham N, et al. Clinical and genetic aspects of KBG syndrome. Am J Med Genet A. 2016 Nov;170(11):2835-2846. doi: 10.1002/ajmg.a.37842. Epub 2016 Sep 26. PMID: 27667800; PMCID: PMC5435101.

Libianto R, Wu KH, Devery S, Eisman JA, Center JR. KBG syndrome presenting with brachydactyly type E. Bone. 2019 Jun;123:18-22. doi: 10.1016/j.bone.2019.03.012. Epub 2019 Mar 12. PMID: 30877071.

Murray N, Burgess B, Hay R, et al. KBG syndrome: An Australian experience. Am J Med Genet A. 2017 Jul;173(7):1866-1877. doi: 10.1002/ajmg.a.38121. Epub 2017 Apr 27. PMID: 28449295.

Brancati F, Sarkozy A, Dallapiccola B. KBG syndrome. Orphanet J Rare Dis. 2006 Dec 12;1:50. doi: 10.1186/1750-1172-1-50. PMID: 17163996; PMCID: PMC1764006.

Scarano E, Tassone M, Graziano C, et al. Novel Mutations and Unreported Clinical Features in KBG Syndrome. Mol Syndromol. 2019 May;10(3):130-138. doi: 10.1159/000496172. Epub 2019 Jan 15. PMID: 31191201; PMCID: PMC6528090.

Ockeloen CW, Willemsen MH, de Munnik S, et al. Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations. Eur J Hum Genet. 2015 Sep;23(9):1176-85. doi: 10.1038/ejhg.2014.253. Epub 2014 Nov 26. Erratum in: Eur J Hum Genet. 2015 Sep;23(9):1270. PMID: 25424714; PMCID: PMC4538199.

Skjei KL, Martin MM, Slavotinek AM. KBG syndrome: report of twins, neurological characteristics, and delineation of diagnostic criteria. Am J Med Genet A. 2007 Feb 1;143A(3):292-300. doi: 10.1002/ajmg.a.31597. PMID: 17230487.

Le HV, Lee SJ, Nazarian A, Rodriguez EK. Adhesive capsulitis of the shoulder: review of pathophysiology and current clinical treatments. Shoulder Elbow. 2017 Apr;9(2):75-84. doi: 10.1177/1758573216676786. Epub 2016 Nov 7. PMID: 28405218; PMCID: PMC5384535.

Kingston K, Curry EJ, Galvin JW, Li X. Shoulder adhesive capsulitis: epidemiology and predictors of surgery. J Shoulder Elbow Surg. 2018 Aug;27(8):1437-1443. doi: 10.1016/j.jse.2018.04.004. Epub 2018 May 25. PMID: 29807717.

Hand G. C. R., Athanasou N. A., Matthews T., and Carr A. J., “The pathology of frozen shoulder,” The Journal of Bone & Joint Surgery (British Volume), vol. 89, no. 7, pp. 928–932, 2007

Cho CH, Song KS, Kim BS, Kim DH, Lho YM. Biological Aspect of Pathophysiology for Frozen Shoulder. Biomed Res Int. 2018 May 24;2018:7274517. doi: 10.1155/2018/7274517. PMID: 29992159; PMCID: PMC5994312.

Kanbe K, Inoue K, Inoue Y, Chen Q. Inducement of mitogen-activated protein kinases in frozen shoulders. J Orthop Sci. 2009 Jan;14(1):56-61. doi: 10.1007/s00776-008-1295-6. Epub 2009 Feb 13. PMID: 19214689; PMCID: PMC2893737.

Ryan V, Brown H, Minns Lowe CJ, Lewis JS. The pathophysiology associated with primary (idiopathic) frozen shoulder: A systematic review. BMC Musculoskelet Disord. 2016 Aug 15;17(1):340. doi: 10.1186/s12891-016-1190-9. PMID: 27527912; PMCID: PMC4986375.

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Published

25-11-2021

How to Cite

1.
Vigni GE, Tomasi A, Sabbioni G, Fazzari F, Surace MF, Camarda L, et al. Adhesive capsulitis in a patient affected by KBG Syndrome. Acta Biomed [Internet]. 2021 Nov. 25 [cited 2024 Jul. 20];92(S1):e2021126. Available from: https://www.mattioli1885journals.com/index.php/actabiomedica/article/view/10789