|Year : 2022 | Volume
| Issue : 4 | Page : 167-172
Osteogenesis imperfecta and dentinogenesis imperfecta: Clinical features and dental management
Chetna Grover, Pankaj Dhawan, Harsimran Kaur, Ashish Kakar
Department of Prosthodontics, Manav Rachna Dental College, Faridabad, Haryana, India
|Date of Submission||27-May-2022|
|Date of Decision||17-Jun-2022|
|Date of Acceptance||19-Jul-2022|
|Date of Web Publication||30-Aug-2022|
Dr. Chetna Grover
Manav Rachna Dental College, Sector - 43, Delhi - Surajkund Road, Faridabad - 121 004, Haryana
Source of Support: None, Conflict of Interest: None
Osteogenesis imperfecta (OI) is a rare congenital condition, marked by fragile bones, skeletal deformities and additional extra-skeletal symptoms. Depending upon the degree of seriousness, affected people can either carry on with a mostly unrestricted, independent life, or their mobility is severely affected, making them dependent on others for support. Despite that, there is no effect on intellectual capacities. The medical and surgical treatments of OI are directed towards improving the patient's quality of life, mobility and functional independence. Because of the close biochemical relationship that exists between collagen and dentine, the teeth are affected in certain patients, leading to dentinogenesis imperfecta (DI) which is described by the appearance of opalescent teeth. To enable preventive intervention and effective dental treatment, it is essential that the correct diagnosis of DI is done at an early stage.
Keywords: Dentinogenesis imperfecta, mutations, osteogenesis imperfecta
|How to cite this article:|
Grover C, Dhawan P, Kaur H, Kakar A. Osteogenesis imperfecta and dentinogenesis imperfecta: Clinical features and dental management. Curr Med Res Pract 2022;12:167-72
|How to cite this URL:|
Grover C, Dhawan P, Kaur H, Kakar A. Osteogenesis imperfecta and dentinogenesis imperfecta: Clinical features and dental management. Curr Med Res Pract [serial online] 2022 [cited 2022 Sep 27];12:167-72. Available from: http://www.cmrpjournal.org/text.asp?2022/12/4/167/355201
| Introduction|| |
Osteogenesis imperfecta (OI), commonly referred as 'brittle bone disease', is a complex genetic disease, which targets the connective tissues. The brittle nature of the bone structure is a result of quantitative and qualitative defects in the synthesis of collagen type I. Apart from bone, other tissues affected are dentine, sclera and ligaments, which have Type I collagen as the principal matrix protein. The abnormalities that result include rigid osseous tissue, growth deficiency, blue sclera, laxity of joints, dentinogenesis imperfecta (DI) and any combination of the abovementioned features. The affected infants manifest several intrauterine fractures of long bones, vertebrae and skull, apart from beaded ribs. In addition, radiographs of severely affected OI patients depict multiple Wormian bones, which impart a characteristic 'mosaic' or 'paving' appearance to the cranial vault.
Clinical features of osteogenesis imperfecta
The clinical features in OI patients are hearing impairment, blue sclera, weak joints, deficient growth, DI and asthma. The estimated incidence of OI is 1 per 20,000–30,000 live births. The extra-skeletal manifestations include short stature, progressive deformities of the spine (kyphosis and scoliosis), the rib cage or the lower limbs [Figure 1].
|Figure 1: A patient suffering from Osteogenesis Imperfecta exhibiting deformity, and bowing of upper & lower limbs|
Click here to view
In 1979, Sillence et al. developed a classification of OI into basic types I–IV, depending on clinical features and severity of the disease. Type I is a mild form of OI which is autosomal dominant, with patient exhibiting variable osseous fragility, blue sclera and hearing deficits. OI Type II is an autosomal dominant or recessive form, with patient presenting severe osseous fragility, blue sclera and perinatal death. OI Type III is an autosomal recessive form, characterised by moderate severity, with common findings as osseous fragility, normal sclera and severe deformity of long bones. OI Type IV is an autosomal dominant or recessive form, with moderate severity, with patient showing osseous fragility, normal sclera, along with bowing bones and vertebral fractures being commonly seen. OI Types V–VII are additions to the original classification. However, Type I collagen mutations are not found in these types and the patients present microscopically abnormal bone.
The chief radiographic features are osteopenia, bowing of long bones of arms [Figure 2], deformity of the bones of the pelvis and hip joint [Figure 3], bowing of legs [Figure 4] and [Figure 5], vertebral compression, gracilis ribs and narrow thoracic apex.
Medical management of osteogenesis imperfect
Currently, there is no absolute cure for OI, as this collagen-related disorder has a genetic origin, however, the various treatment approaches aim to improve the patient's quality of life. The symptomatic treatment options available can be undertaken depending on the clinical severity of the disease. No medical treatment is usually required for mild OI cases, where the subjects are completely mobile and experience few fractures. In OI fracture cases, it is essential to limit excessive immobilisation so as to reduce secondary disuse osteopenia and excessive muscle weakness. However, more severely affected subjects can be treated through intravenous bisphosphonates (BP), so as to increase bone mineral density. Nonetheless, BP's show maximum efficacy in the 1st year when they are administered, possess a long half-life and are not successful in all OI cases.
Denosumab is a monoclonal antibody (IgG2) which inhibits the formation of osteoclasts. It has a relatively short degradation period which is its chief advantage, thus avoiding the long-term side effects of BPs. It has been shown that in grown-ups with OI, synthetic parathyroid hormone (teriparatide), resulted in improved bone mass density. Other promising methodologies for the management of OI are the use of human foetal mesenchymal stem cells transplantation, the use of anti-transforming growth factor-β antibodies and genetic engineering. However, the majority of these strategies are as yet in the exploratory stage. Hence, detailed research and studies are expected to affirm their benefits in the management of OI.
Surgical interventions, such as osteotomy followed by intramedullary rodding, are required for subjects with decreased mobility due to leg deformities, to straighten out deformed bones. Spinal fusion surgery is indicated for subjects with scoliosis.
DI is a chief dental feature seen in OI patients, however, every OI subject does not exhibit this feature. The hereditary dentine disorders, namely dentine dysplasia (DD) and DI, are autosomal dominant genetic conditions exhibiting defective dentine structure. Two types of DD are observed presently, which are as follows:
- DD-I: The clinical crowns of primary and permanent teeth are of normal shape, but radiographically depict short roots and pulp remnants near the cementoenamel junction in the permanent dentition, and total obliteration of pulp in the primary dentition
- DD-II: The primary teeth exhibit characteristics of DGI-II. The permanent teeth are usually of normal shape, with normal root length and the presence of pulp stones and a thistle-tube deformity in the pulp cavity.
DI is a hereditary disorder with high penetration and low mutation rate. The incidence of DI is 1 in 8000, with primary teeth being more severely affected as compared to permanent dentition. This condition is characterised clinically by translucent dentine due to structural defects in dentine formation that occurs during the histodifferentiation stage. There is a variation for tooth colour from opalescent grey or brown to yellow. Depending upon the clinical appearance, DI has been divided into three basic types: I, II and III according to Shield's Classification:
- DI Type I occurs in conjunction with OI. The aetiology of this condition is a defect in type I collagen synthesis. Mainly, the primary dentition is affected and exhibits a variable expression in permanent dentition, usually affecting the lower anterior teeth. The chief clinical feature is the presence of blue sclera, with the presence of opalescent teeth
- DI Type II (commonly referred as hereditary opalescent dentine) is not associated with OI. This condition occurs due to a defect in the mineralisation of dentine. The dentinoenamel junction is weak and cracking within enamel/at dentinoenamel junction is seen. Apart from this, the teeth exhibit an amber-brown or blue-grey discolouration with the presence of an opalescent sheen [Figure 6]
- DI Type III is a severe form of DI Type II. The dental phenotype is similar to DI Type I and II. The deciduous teeth have large pulp chambers and multiple pulp exposures are commonly seen.
|Figure 6: Clinical picture of a patient with DI Type II. DI: Dentinogenesis imperfecta|
Click here to view
According to recent genetic studies, DI Type I is caused due to mutations in the genes encoding collagen type 1, COL1A1 and COL1A2. Mutations in the gene encoding dentine Sialophosphoprotein lead to all other forms of DI and DD, excluding DD-1. Radiographically, the crowns appear bulbous due to marked cervical constriction, roots are of short length, and the dentine is defective [Figure 7]. Midface hypoplasia Class-III malocclusion, unilateral or bilateral crossbite [Figure 8] and ectopic eruption of first or second permanent molars are commonly seen in these patients.
|Figure 7: Orthopantomogram of a patient with DI. DI: Dentinogenesis imperfecta|
Click here to view
Dental management of dentinogenesis imperfecta
The chief goals of treatment in DI patients are preserving function, ensuring optimal aesthetics and phonetics. A detailed clinical and radiological examination should be performed before contemplating restorative interventions, so as to determine the degree of pulpal calcification and the length of roots. Ideally, treatment should be completed before or at the time when all primary teeth have erupted.
Endodontic treatment carried out on teeth of subjects affected by DI may prove difficult due to the altered morphology and calcification. Even if the root canals are negotiated, the endodontic treatment can be carried out as normal, but it should be noted that any restoration placed on a root-treated tooth would have a questionable prognosis because of the naturally weakened dentine. The utilisation of 3D imaging facilitates better comprehension of the degree of destruction, and also helps in the fabricating templates for access opening and negotiation of canals.
- Full-coverage restorations: Full-coronal coverage is the treatment of choice, since there is poor retention of intra-coronal restorations in DI teeth. Stainless steel crowns are recommended for protection of primary molar teeth, as loss of occluso-vertical dimension (OVD) can be a serious consequence of tooth tissue loss due to attrition, erosion and abrasion of enamel and the weakened underlying dentine. Full-mouth rehabilitation can be performed with ceramometal restorations, bonded porcelain veneers and all-ceramic crowns [Figure 9]a and [Figure 9]b. The prevention of tooth wear may also avoid the possibility of endodontic complications that may arise as a further consequence of tooth surface loss.
- Veneers: Veneers should also be considered a possible treatment option in cases of tooth wear and to improve aesthetics in anterior teeth. Aesthetics are more of a problem in the primary dentition and affected primary teeth could therefore be masked with composite resin. Direct or indirect composite veneers are useful as an interim measure until the child is older, to manage anterior aesthetics. The teeth in the permanent dentition are often less affected than those of the primary series, and aesthetics may be less of a concern in the adult patient. Permanent restorations (e.g.-porcelain veneers) can be placed on the teeth in the permanent dentition if their appearance is still unsatisfactory
- Adhesive restorations: Clinically, bonding to the defective dentine has been proven to be successful in most cases of DI. However, owing to the risk of enamel fracture, intra-coronal restorations are contraindicated. Apart from providing protection for underlying tooth tissue, restoration of teeth is necessary to restore OVD, function, aesthetics and speech. A wide plethora of adhesive restorative dental materials, such as composite resin, glass ionomer cement and compomers which are widely available and can be employed for the restoration of worn dentition
- Dental implants: Dental implants can be placed in OI Type I cases, if their overall periodontal condition is good and there is adequate bone density. Cone-beam computerised tomographic radiography helps in the assessment of bone quality in the edentulous before the placement of dental implants. It is essential to approach implant dentistry with caution in Type III and IV OI subjects, as the failure rate may higher. Guided implant surgeries are favoured for prosthetic-driven outcomes
- Other treatment approaches: In cases of extensive attrition, overdentures may also be used to protect remaining tooth tissue and maintain occlusal face height. Indirect resin crown technique is an aesthetic and economic technique to treat enamel hypoplasia and attrition. The application of clear aligner therapy in patients with DI is favoured over fixed orthodontic treatment.
|Figure 9: (a) Pre-treatment picture of DI Type II patient (b) Placement of definitive prosthesis|
Click here to view
| Conclusion|| |
The primary goals of OI treatment are directed towards minimising deformity, maintaining comfort and maximising function. Attainment of these goals requires a multidisciplinary approach to customise treatment needs according to the disease severity and patient's age. A cautious approach is recommended, as OI-affected individuals present with distinct dentoalveolar problems. Recommended treatment options for decayed primary or permanent teeth are full-coverage restorations. Other treatment options include composite restorations, veneers, endodontic treatment, overdentures and dental implants. Long-term follow-up is paramount to adjust the treatment according to the changes of dentition and occlusion and prevent further complications.
Financial support and sponsorship
Conflicts of interest
There are no conflicts of interest.
| References|| |
Engelbert RH, Pruijs HE, Beemer FA, Helders PJ. Osteogenesis imperfecta in childhood: Treatment strategies. Arch Phys Med Rehabil 1998;79:1590-4.
Marini JC. Osteogenesis imperfecta. In: Behrman RE, Kliegman RM, Jenson HB, editors. Nelson Textbook of Pediatrics. 17th
ed. Philadelphia: Saunders; 2004. p. 2336-8.
Glorieux FH, Rowe D. Osteogenesis imperfecta. Pediatric bone. 2012 Jan 1:511-39.
Roughley PJ, Rauch F, Glorieux FH. Osteogenesis imperfect-clinical and molecular diversity. Eur Cell Mater 2003;5:41-7.
Marini JC. Osteogenesis imperfecta: Comprehensive management. Adv Pediatr 1988;35:391-426.
Sillence D. Osteogenesis imperfecta: An expanding panorama of variants. Clin Orthop Relat Res 1981;159:11-25.
Calder AD. Radiology of osteogenesis imperfecta, rickets and other bony fragility states. Endocr Dev 2015;28:56-71.
Sillence D, Senn A, Danks DM. Genetic heterogeneity in osteogenesis imperfecta. Journal of medical genetics 1979;16:101-16.
Renaud A, Aucourt J, Weill J, Bigot J, Dieux A, Devisme L, et al.
Radiographic features of osteogenesis imperfecta. Insights Imaging 2013;4:417-29.
Rauch F, Glorieux FH. Osteogenesis imperfecta. Lancet 2004;363:1377-85.
Gatti D, Viapiana O, Lippolis I, Braga V, Prizzi R, Rossini M, et al.
Intravenous bisphosphonate therapy increases radial width in adults with osteogenesis imperfecta. J Bone Miner Res 2005;20:1323-6.
Lin JH. Bisphosphonates: A review of their pharmacokinetic properties. Bone 1996;18:75-85.
Narayanan P. Denosumab: A comprehensive review. South Asian J Cancer 2013;2:272-7.
] [Full text]
Li G, Jin Y, Levine MA, Hoyer-Kuhn H, Ward L, Adachi JD. Systematic review of the effect of denosumab on children with osteogenesis imperfecta showed inconsistent findings. Acta Paediatr 2018;107:534-7.
Camacho PM, Petak SM, Binkley N, Clarke BL, Harris ST, Hurley DL, et al.
American Association of Clinical Endocrinologists and American College of Endocrinology clinical practice guidelines for the diagnosis and treatment of postmenopausal osteoporosis-2016. Endocr Pract 2016;22:1-42.
Botor M, Fus-Kujawa A, Uroczynska M, Stepien KL, Galicka A, Gawron K, et al.
Osteogenesis imperfecta: Current and prospective therapies. Biomolecules 2021;11:1493.
Ruck J, Dahan-Oliel N, Montpetit K, Rauch F, Fassier F. Fassier-Duval femoral rodding in children with osteogenesis imperfecta receiving bisphosphonates: Functional outcomes at one year. J Child Orthop 2011;5:217-24.
Cheung MS, Glorieux FH. Osteogenesis Imperfecta: Update on presentation and management. Rev Endocr Metab Disord 2008;9:153-60.
Barron MJ, McDonnell ST, Mackie I, Dixon MJ. Hereditary dentine disorders: Dentinogenesis imperfecta and dentine dysplasia. Orphanet J Rare Dis 2008;3:31.
Paterson CR, McAllion S, Miller R. Heterogeneity of osteogenesis imperfecta type I. J Med Genet 1983;20:203-5.
Kim JW, Simmer JP. Hereditary dentin defects. J Dent Res 2007;86:392-9.
Rao S, Witkop CJ Jr. Inherited defects in tooth structure. Birth Defects Orig Artic Ser 1971;7:153-84.
Shields ED, Bixler D, el-Kafrawy AM. A proposed classification for heritable human dentine defects with a description of a new entity. Arch Oral Biol 1973;18:543-53.
Rios D, Vieira AL, Tenuta LM, Machado MA. Osteogenesis imperfecta and dentinogenesis imperfecta: Associated disorders. Quintessence Int 2005;36:695-701.
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;20:112-8.
O'Connell AC, Marini JC. Evaluation of oral problems in an osteogenesis imperfecta population. Oral Surg Oral Med Oral Pathol Oral Radiol Endod 1999;87:189-96.
Sapir S, Shapira J. Dentinogenesis imperfecta: An early treatment strategy. Pediatr Dent 2001;23:232-7.
Herold RC. Fine structure of tooth dentine in human dentinogenesis imperfecta. Arch Oral Biol 1972;17:1009-13.
Rousseau M, Retrouvey JM, Members of the Brittle Bone Disease Consortium. Osteogenesis imperfecta: Potential therapeutic approaches. PeerJ 2018;6:e5464.
Henke DA, Fridrich TA, Aquilino SA. Occlusal rehabilitation of a patient with dentinogenesis imperfecta: A clinical report. J Prosthet Dent 1999;81:503-6.
Kasabwala KA, Saumya-Rajesh P, Velmurugan N, Ashritha MC. Pulp canal obliteration: A review. J Oper Dent Endod 2020;5:7.
Dhaliwal H, McKaig S. Dentinogenesis imperfect-clinical presentation and management. Dent Update 2010;37:364-6, 369-71.
Pettiette MT, Wright JT, Trope M. Dentinogenesis imperfecta: Endodontic implications. Case report. Oral Surg Oral Med Oral Pathol Oral Radiol Endod 1998;86:733-7.
Prabhu N, Duckmanton N, Stevenson AR, Cameron A. The placement of osseointegrated dental implants in a patient with type IV B osteogenesis imperfecta: A 9-year follow-up. Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2007;103:349-54.
Quinonez R, Hoover R, Wright JT. Transitional anterior esthetic restorations for patients with enamel defects. Pediatr Dent 2000;22:65-7.
Sawan NM. Clear aligners in patients with amelogenesis and dentinogenesis imperfecta. Int J Dent 2021;2021:7343094.
[Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6], [Figure 7], [Figure 8], [Figure 9]