Dental Findings and Treatment in Osteogenesis Imperfecta: A Case Report

Abstract

Abstract Osteogenesis imperfecta (OI) is a genetically inherited disease in which increased bone fragility, low bone mass, and connective tissue disorders are seen. In other words, 'glass bone disease'; has been associated with blue sclera, hearing problems, hand-foot deformities, and dentinogenesis imperfecta. In this case, a 10-year-old girl with OI who applied to Gaziantep University Faculty of Dentistry Department of Pedodontics is presented. Among the physical findings of the patient, short stature, hearing loss, pectus excavatum, grayish blue sclera, hand-foot deformities, malocclusions in the relationship between the jaws were found. In the clinical examination of the patient, lack of oral hygiene, deep dentin caries, crowding, macroglossia, class 3 malocclusion were observed and teeth that needed treatment were treated.

Keywords

• Osteogenesis imperfecta
• pedodontics
• dental findings

Ethical Statement

It is declared that during the preparation process of this study, scientific and ethical principles were followed and all the studies benefited are stated in the bibliography.

Osteogenezis İmperfektada Dental Bulgular ve Tedavi: Bir Vaka Raporu

Abstract

Öz Osteogenezis imperfekta (OI), artmış kemik kırılganlığı, düşük kemik kütlesi ve bağ dokusunda bozuklukların görüldüğü genetik geçişli bir hastalıktır. Diğer bir deyişle ‘cam kemik hastalığı’; mavi sklera, işitme problemleri, el-ayak deformiteleri ve dentinogenezis imperfekta ile ilişkilendirilmiştir. Bu olguda, Gaziantep Üniversitesi Diş Hekimliği Fakültesi Pedodonti Anabilim Dalı’na başvuran 10 yaşında Oİ tanılı kız çocuk hasta sunulmaktadır. Hastanın fiziki bulguları arasında boy kısalığı, işitme kaybı, pectus ekskavatum, grimsi mavi sklera, el-ayak deformiteleri, çeneler arası ilişkide maloklüzyonlar saptanmıştır. Hastanın klinik muayenesinde oral hijyen eksikliği, derin dentin çürükleri, çapraşıklık, makroglossi, sınıf 3 maloklüzyon görülmüş ve tedavi gereksinimi olan dişleri tedavi edilmiştir. Anahtar kelimeler: Osteogenezis imperfekta, pedodonti, dental bulgular

Keywords

• Osteogenezis imperfekta
• pedodonti
• dental bulgular

Ethical Statement

Bu çalışmanın hazırlanma sürecinde bilimsel ve etik ilkelere uyulduğu ve yararlanılan tüm çalışmaların kaynakçada belirtildiği beyan olunur.

References

1. 1. Tournis S, Dede AD. Osteogenesis imperfecta–a clinical update. Metabolism. 2018;80:27–37.
2. 2. Ralston SH, Gaston MS. Management of osteogenesis imperfecta. Front Endocrinol (Lausanne). 2020;10:924.
3. 3. Taqi D, Moussa H, Schwinghamer T, Ducret M, Dagdeviren D, Retrouvey J-M, et al. Osteogenesis imperfecta tooth level phenotype analysis: Cross-sectional study. Bone. 2021;147:115917.
4. 4. Glorieux FH, Rauch F, Plotkin H, Ward L, Travers R, Roughley P, et al. Type V osteogenesis imperfecta: a new form of brittle bone disease. J Bone Miner Res. 2000;15(9):1650–8.
5. 5. Semler O, Garbes L, Keupp K, Swan D, Zimmermann K, Becker J, et al. A mutation in the 5′-UTR of IFITM5 creates an in-frame start codon and causes autosomal-dominant osteogenesis imperfecta type V with hyperplastic callus. Am J Hum Genet. 2012;91(2):349–57.
6. 6. Marom R, Rabenhorst BM, Morello R. Management of endocrine disease: Osteogenesis imperfecta: An update on clinical features and therapies. Eur J Endocrinol. 2020;183(4):R95–106.
7. 7. O’connell AC, Marini JC. Evaluation of oral problems in an osteogenesis imperfecta population. Oral Surgery, Oral Med Oral Pathol Oral Radiol Endodontology. 1999;87(2):189–96.
8. 8. Ibrahim S, Strange AP, Aguayo S, Shinawi A, Harith N, Mohamed-Ibrahim N, et al. Phenotypic properties of collagen in dentinogenesis imperfecta associated with osteogenesis imperfecta. Int J Nanomedicine. 2019;9423–35.

9. 9. Nutchoey O, Intarak N, Theerapanon T, Thaweesapphithak S, Boonprakong L, Srijunbarl A, et al. Phenotypic features of dentinogenesis imperfecta associated with osteogenesis imperfecta and COL1A2 mutations. Oral Surg Oral Med Oral Pathol Oral Radiol. 2021;131(6):694–701.
10. 10. Paglia L, Gallus S, de Giorgio S, Cianetti S, Lupatelli E, Lombardo G, et al. Reliability and validity of the Italian versions of the Children’s Fear Survey Schedule - Dental Subscale and the Modified Child Dental Anxiety Scale. Eur J Paediatr Dent [Internet]. 2017 [cited 2021 Jun 15];18(4):305–12. Available from: https://pubmed.ncbi.nlm.nih.gov/29380617/
11. 11. Günay AY, Gülsüm AK. İlaca Bağlı Olarak Çene Kemiklerinde Görülen Osteonekrozda Dental Yönetim ve Güncel Tedavi Yaklaşımları: Derleme. Sağlık Bilim İleri Araştırmalar Derg. 2020; 3(2):81–92.
12. 12. Duraisamy V, Xavier A, Nayak UA, Reddy V, Rao AP. An in vitro evaluation of the demineralization inhibitory effect of F− varnish and casein phosphopeptide-amorphous calcium phosphate on enamel in young permanent teeth. J Pharm Bioallied Sci. 2015;7(Suppl 2):S513.
13. 13. Kumar VLN, Itthagarun A, King NM. The effect of casein phosphopeptide‐amorphous calcium phosphate on remineralization of artificial caries‐like lesions: an in vitro study. Aust Dent J. 2008;53(1):34–40.
14. 14. Forlino A, Marini JC. Osteogenesis imperfecta. Lancet. 2016;387(10028):1657–71.
15. 15. Yoneda T, Hagino H, Sugimoto T, Ohta H, Takahashi S, Soen S, et al. Bisphosphonate-related osteonecrosis of the jaw: position paper from the allied task force committee of Japanese society for bone and mineral research, Japan osteoporosis society, Japanese society of periodontology, Japanese society for oral and maxillofacial radiology, and Japanese society of oral and maxillofacial surgeons. J Bone Miner Metab. 2010;28:365–83.
16. 16. Orwoll ES, Shapiro J, Veith S, Wang Y, Lapidus J, Vanek C, et al. Evaluation of teriparatide treatment in adults with osteogenesis imperfecta. J Clin Invest. 2014;124(2):491–8.
17. 17. Hoyer-Kuhn H, Franklin J, Allo G, Kron M, Netzer C, Eysel P, et al. Safety and efficacy of denosumab in children with osteogenesis imperfecta-a first prospective trial. J Musculoskelet Neuronal Interact. 2016;16(1):24.
18. 18. Prockop DJ. The exciting prospects of new therapies with mesenchymal stromal cells. Cytotherapy. 2017;19(1):1–8.
19. 19. Okawa R, Kubota T, Kitaoka T, Kokomoto K, Ozono K, Nakano K. Oral manifestations of Japanese patients with osteogenesis imperfecta. Pediatr Dent J. 2017;27(2):73–8.
20. 20. Majorana A, Bardellini E, Brunelli PC, Lacaita M, Cazzolla AP, Favia G. Dentinogenesis imperfecta in children with osteogenesis imperfecta: a clinical and ultrastructural study. Int J Paediatr Dent. 2010;20(2):112–8.
21. 21. Najirad M, Madathil SA, Rauch F, Sutton VR, Lee B, Retrouvey J-M, et al. Malocclusion traits and oral health–related quality of life in children with osteogenesis imperfecta: A cross-sectional study. J Am Dent Assoc. 2020;151(7):480–90.