Osteogenesis imperfecta and clinical oral manifestation: a short narrative review.

V. Campanella 1, V. Di Taranto 1, A. Libonati 2, A. Mea 1, R. Nardi 1, V. Angotti 1 and G. Gallusi 1

1 Department of Clinical and Translational Medicine, Dental School, University of Rome “Tor Vergata”, Rome, Italy

2 Department of Surgical Sciences, Dental School, Catholic University of Our Lady of Good Counsel of Tirane, Tirane, Albania

Abstract: Osteogenesis Imperfecta (OI) is an autosomal dominant genetic disease known also as a “brittle bone disease” that involve connective tissue. The prevalence of Dentinogenesis Imperfecta (DI) in patients with OI type I varies from 8% to 40%, while the highest incidence of DI was found in patients with OI type III and IV (Lund AM, 1998). DI was more evident in the primary teeth than in permanent of patients with OI. It was important to have a strict collaboration between orthopedic specialist doctors and dentists to verify and solving dento-skeletal issues of patients affected by OI associated with DI.

Keywords: Osteogenesis imperfecta, Dentinogenesis imperfecta, collagen type 1, dysplastic dentin, bimaxillary surgery

Osteogenesis Imperfecta (OI) is an autosomal dominant genetic disease known also as a “brittle bone disease” that involve connective tissue (1). This disease affects males and females equally, with an incidence of 1 in 20-30,000 live births (2, 3).

In 1979, Sillence et al. (4) classified OI in 4 types. OI-Type I (mild form) patients presents a reduction in stature, blue sclera and hearing deficit. OI-Type II (Perinatal lethal) is fatal during intrauterine life or in the perinatal period. There is a severe bone fragility with multiple fractures that appear even when the fetus is still in utero. OI-Type III (Progressive deforming) patients present fractures at birth and / or in utero, severe osteoporosis, progressive limb deformation and kyphoscoliosis, normal sclera but variable color and reduced stature. OI-Type IV is the clinically less severe form, with normal or little stature, mild or moderate bone fragility, normal sclera and normal hearing. Therefore, type I was a purely quantitative collagen defect, while types II, III and IV showed qualitative and quantitative changes in the synthesis of collagen (1).

In 1978, Levin et al. (5) suggested a modification to the classification of Sillance (4), adding subtypes A and B based on the absence or presence of Dentinogenesis imperfecta (DI). The prevalence of DI in patients with OI type I varies from 8% to 40%, while the highest incidence of DI was found in patients with OI type III and IV (6).

OI is the result of genes mutation encoding a1 and a2 chains of collagen type 1. The genes encoding for collagen type 1 were COL1A1 and COL1A2 (7), and this leads to skeletal clinical symptoms such as fractures, bone deformities, and pain, but especially OI patients suffer from diseases in internal organs that contain a high content of collagen type 1(8). In fact, collagen type 1 is an important component of stromal sclera, cornea and uveal tissue, so alterations in the production of collagen type 1 can cause myopia and astigmatism, common conditions in patients with OI (9, 10).

In general, OI caused problems not only for the skeleton and joints, but also for eyes, ears, skin and teeth.

Considering that the organic part of the dentin is composed by collagen type 1, it follows that alterations and mutations of the collagen type 1 lead to the formation of a dysplastic dentin, to anomalies in the shape of the dental elements and to a greater susceptibility to the fracture also in patients with OI (1, 11).

Dentinogenesis imperfecta: features and clinical solutions

Dentinogenesis imperfecta (DI) is an autosomal-dominant genetic disease with an incidence of 1 out of 6000 to 1 out of 8000 (12). This disorder has been classified into three subtypes: type I (DI-I), that is also called “syndromic”, associated with osteogenesis imperfecta (OI) types III and IV; type II (DI-II), “non-syndromic”, limited to dentin. Type III (DI-III), “hereditary opalescent dentin” (Brandywine) initially detected in southern Maryland (USA) (13), characterized by larger pulp chambers that lead to multiple pulp exposure, mainly in deciduous dentition (14).

Clinically DI is characterized by opalescent and amber dentin and thin, translucent and greyish-brown enamel. Radiographically DI affected teeth have a bulbous crown, short and constricted roots and partial or total obliteration of pulp space, due to continuous dentin production (15). The same authors reported a SEM analysis, highlighting an undulated dentin-enamel junction (DEJ) with irregularities and locally wide spaces between the two structures instead of a strict junction and a regular linear surface.

Other studies (16), highlined typical features of DI enamel and dentin. The enamel surface is irregular because the hydroxyapatite crystals in the enamel prisms spread in different directions, plainly showing a weakened tissue structure. Dentin is both atubular or with few wide tubules, and collagen fibers spread in different directions along the walls. Moreover, an almost complete obliteration of the pulp chamber is observed, short and thin roots and considerable loss of vertical dimension consequent to an enamel and dentin weakening (17).

Regarding the dental treatment of patients affected by DI associated with OI, the literature is highly variable, as there is no protocol or guidelines to follow to minimize the number of interventions. Many cases were treated with a prosthetic approach, that provided for the coverage of the first and second deciduous molars and of the first permanent molars with preformed metal steel crowns, which guaranteed the tooth protection and function and restored the lost vertical dimension (19, 20, 21, 22, 23). In some follow-ups reported over the years, it was clearly shown how the treated teeth had cervical lesions and fractures due to the difficulty in keeping a good level of oral hygiene, resulting in bone loss and need of extractions (22). Gallusi et al. (15) proposed an approach that would allow to preserve as much enamel as possible, using complete indirect composite adhesive restorations (23) in the posterior teeth and aesthetic ceramic veneers in the anterior teeth.

Orthognatic and Maxillofacial surgery

Patients with OI had a triangularly face shaped with broad forehead and an overhanging occiput. A Class III malocclusion is seen in 75% of adults with OI (1). The Class III malocclusion is related with retrognathic maxilla and a prognathic mandibula, but it can be corrected with an orthognatic and maxillofacial surgical approach (24). Initially, a presurgical orthodontic treatment with levelling and alignment for 1 year was performed.

Considering high bone fragility, Le Fort I (advancement maxilla and mandibula retrusion) osteotomies must be reduced; also, vascular disorders can lead to bleeding peri- or postoperatively, due to the collagen deficiency in the vessels. Also, bimaxillary surgery was planned in two appointment instead one, to minimize the risk of hemorrhage. The authors (24) sustained that the combination of the orthodontic treatment and the orthognathic and maxillofacial surgery can lead to an excellent result in terms of function, occlusion and aesthetics.

Conclusions

OI, eventually associated with DI, needed a medical-orthopedic classification and an indispensable dentist collaboration. It was important that in the training of orthopedic specialist doctors, there were dentistry notions aimed at early intercepting, and then solving dento-skeletal issues of patients affected by OI associated with DI (25).

Therefore, when dental professionals were verifying DI, they should take a detailed medical history and be aware of the potential for OI involvement.

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