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CASE REPORT Table of Contents   
Year : 2008  |  Volume : 19  |  Issue : 4  |  Page : 357-361
Dentinogenesis imperfecta: A review and case report of a family over four generations


Department of Prosthodontics, HSJ Institute of Dental Sciences and Hospital, Panjab University, Chandigarh, India

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Date of Submission11-May-2007
Date of Decision19-May-2008
Date of Acceptance22-May-2008
 

   Abstract 

Dentinogenesis imperfecta (DGI) is one of the most common hereditary disorders of dentin formation. It follows an autosomal dominant pattern of transmission, affecting both the formation and mineralization of dentin. Either or both primary and permanent dentition is affected by it. This paper briefly reviews the manifestations of DGI Type II (DGI1) and presents a case report of a family affected with DGI1 over four generations.

Keywords: Autosomal dominant, dentinogenesis imperfecta, dystrophic dentin, mesodermal defect, pulpal space obliteration

How to cite this article:
Bhandari S, Pannu K. Dentinogenesis imperfecta: A review and case report of a family over four generations. Indian J Dent Res 2008;19:357-61

How to cite this URL:
Bhandari S, Pannu K. Dentinogenesis imperfecta: A review and case report of a family over four generations. Indian J Dent Res [serial online] 2008 [cited 2020 Oct 21];19:357-61. Available from: https://www.ijdr.in/text.asp?2008/19/4/357/44543
Dentinogenesis imperfecta (DGI) is one of the most common hereditary disorders of dentin formation (1:8000)[1] . It follows an autosomal dominant Mandelian trait with a high degree of penetrance. [1],[2],[3],[4],[5] It has a very low incidence of apparent spontaneous mutations, signifying a basic defect in structural and regulatory protein. [6]

Commonly known as hereditary opalescent dentin or Capdepont dysplasia. [1] It is a localized mesodermal defect wherein the dental papilla of either or both primary and secondary dentition is abnormal. [2]

DGI has been classified by Shields and co-workers [1],[2],[3],[4] into three types:

  1. Type I, DGI associated with osteogenesis imperfecta (OI). Both are mesodermal defects, (although OI may occur without DGI).
  2. Type II, DGI without OI.
  3. Type III, brandywine type. It is a rare variety characterized by shell teeth, with very little dentin and multiple pulp exposures in the primary teeth. [1],[7],[8],[9]


Extensive research over the years has proven that DGI and OI are two separate and distinct entities, unrelated to each other. Therefore, a revised classification was proposed where DGI is classified as 1 and 2. Both types are not associated with OI. DGI1 corresponds to DGI type II and DGI2 corresponds to the DGI type III of Shields classification, respectively. There is no substitute for DGI type I in this revised classification. [1]

Patients affected with DGI show a peculiar color deviation from the natural dentition that ranges from gray to brownish violet or yellowish brown, with a characteristic unusual translucent or opalescent hue. [1],[2],[3],[4],[5],[6] This is attributed to the dentinal disturbance, with enamel being normal. These teeth are prone to excessive wear and fracture due to the primary abnormality in the structure and composition of dentin and presumably abnormal dentin-enamel junction that lacks normal scalloping. [6] However, the caries incidence is low in these patients due to early wear of the fissures and contact points. There is an early attrition of dentin in deciduous teeth with hyperplasia of the residual ridges. [8]

Radiographically, teeth affected with DGI have partial or complete precocious obliteration of pulpal space. This is attributed to the continual dentin formation. Teeth have short and blunt or spike-like roots, and bulbous crowns with cervical constrictions, giving them a typical 'tulip' appearance. [1] The cementum, periodontal ligament, and supporting bone are normal.

The histological appearance of dentin in affected teeth shows sparse and irregular tubules, which may be irregular in shape, size, number, and course. Characteristically, a layer of mantle dentin is succeeded by irregularly formed dentin, often with large areas of uncalcified matrix (globular dentin). [10],[11] The increased water content (as much as 60% of the normal), [5],[7] and decreased inorganic mineral content of dentin takes its hardness close to that of cementum. [2],[5],[6]


   Case Report Top


A 23-year-old female (III 1) presented to the prosthodontic clinic at the Post Graduate Institute of Medical Education and Research, Chandigarh, India, with the chief complaint of attrited teeth and pain in the left lower back teeth since two weeks.

History revealed that her intact primary and secondary dentition had an unsightly color deviation from the normal. Many of her mandibular teeth were extracted because of pain and mobility two years back. There was no history of any unusual bone brittleness or unexplained hearing loss in the family, or any other systemic illness or drug usage in the present or past.

On further questioning, she reported that her mother (II 1), her maternal grandmother (I 1), five other siblings (III 2-6), both maternal aunts (II 3 and 5), and a few children of her aunts had attrited teeth and the same color deviation [Figure 1]. Her father (II 2) and all the paternal relatives were normal.

Intraoral examination revealed the remaining dentition attrited to the level of the gingiva. There were mobile root stumps in the left lower quadrant. All third molars were intact and firm. Several root stumps were present in the maxillary arch as well [Figure 2].

Radiographic evaluation showed the root stumps in the mandibular arch associated with extensive bone loss and periapical pathology. Root stumps in the maxilla showed partial obliteration of root canals, spike-like roots, with no periapical pathology [Figure 3].

The patient (III 1), at such a young age, had the typical appearance of an edentulous person with loss of vertical dimension, decreased nose to chin distance, prognathic facial profile, and loss of lower lip support [Figure 4].

Her mother (II 1) [Figure 5] and all five younger siblings (three sisters and two brothers), were called for evaluation. They all had similar color deviation from the natural dentition and attrited dentition [Figure 6],[Figure 7],[Figure 8],[Figure 9],[Figure 10],[Figure 11]. Her elder brother (III 5), 15-years-old, had all the first molars decayed beyond the level of restoration. Youngest brother (III 6), 13-years-old, had Angle's class III malocclusion, and incisal and labial wear of the maxillary anteriors. There was complete loss of labial enamel on both the mandibular first molars, posterior crossbite on the right side, and posterior open bite on the left side [Figure 6],[Figure 7]. Rest of the teeth showed no evidence of any pathology in both the male siblings. Oral hygiene was fair.

Clinical evaluation of three sisters, aged 21 (III 2), 19 (III 3), and 17 (III 4) years revealed the same color deviation and chipping of teeth although the extent of wear varied among them [Figure 8],[Figure 9].

All the three sisters had first molars beyond the level of repair. One sister (III 2) presented with wear much ahead of her age with upper and lower incisors attrited to the level of the gingiva. She presented with an anterior open bite with occlusal contacts present on the canine premolar on the left side and second molar on the right side, and loss of enamel from the labioincisal area in the anterior segment [Figure 9]. All third molars were in the formative stage, none were clinically visible in the oral cavity.

Radiographs showed partial and complete obliteration of root canals, bulbous crowns with cervical constriction, and spike-like roots with periodontal ligament thickening of the lower anterior teeth in elder brother [Figure 10],[Figure 11],[Figure 12],[Figure 13],[Figure 14]. However, no perceptible mobility was noticed. All the six patients examined had hypoplastic white opaque areas in the cervical third of all the teeth.


   Discussion Top


The reported family was affected with DGI1. Diagnosis was made on the basis of history, clinical evaluation, radiographic assessment, and the autosomal dominant inheritance pattern in the family over four generations [Figure 1]. All the family members had different degrees of wear and chipping of enamel. Wear can be attributed to the decreased mineralization of dentin, increased water content, and defective dentinoenamel junction. Extent and variation in the amount of attrition could be attributed to the patient's age and penetrance of the genetic defect. Also, significant amount of wear in two of the sisters compared to the other siblings can be related to the increased penetrance of the genetic defect in them.

DGI is thought to have been first recognized by WC Barrett (1882). However, Talbot (1893) was the first to publish a report describing it as an enamel defect. The fact that the defect is primarily due to abnormal dentin was first recognized by Fargin-Foyelle and Malassez in 1908. [8]

The teeth affected with DGI1 emphasize purely a mesodermal defect in which the primary structural abnormality is in the dentin. Kerbel et al., [5] and Wright et al., [10] showed gross abnormality of dentinal tubules and dentinal calcification whereas enamel, cementum, and periodontal ligament were normal. Chipping of the teeth in DGI results because of microfractures within the dentin and defective dentinoenamel junction. Dentinal tubules are greatly reduced in number or are completely absent, giving the appearance of transparent dentin. [13] Dentinal tubules when present are narrow (≤1 µm), tortuous, and irregularly distributed. They being short may not penetrate the entire thickness of dentin leading to excessive intertubular dentin. Kerbel et al., [5] and Wright et al., [10] attributed the mineral phase in DGI to carbonated apatite with the crystallite of normal shape and size, but less numerous than in normal dentin. The affected dentin has less of calcium (Ca), phosphorus (P), magnesium, a higher Ca:P ratio, and higher water content. The chief characteristic of DGI1 is higher wear rates due to absence of intrafibrillar mineralization. The greatest mechanical implication of lower mineral concentration as compared to normal dentin is the premature fracture of the teeth. [12]

Kinney et al., [12] reported DGI1 to be due to an autosomal dominant mutation in dentin sialophosphoprotein gene (Gene map locus 4q12-q21) [13] , which encodes for two dentin specific noncollagenous acidic matrix proteins: dentin sialophosphoprotein (DSP) and dentin phosphoprotein (DPP), which together constitute 50% of the noncollagenous composition of dentin. [13],[14] MacDougall et al., [15] found that DPP and DSP are cleavage products expressed from a single transcript coded by a gene on human chromosome 4.

Previously, many different means of histological examinations like light microscopy, [10] polarized light microscopy, scanning electron microscopy, [16],[17] transmission electron microscopy, and microradiography [17] were used for preparing and examining the teeth affected with DGI. However, these studies have revealed a variable data. Also, there may have been a difference in the degree of affected dentin due to intra and inter arch variability.

Due to this myriad qualitative presentation, a semiquantitative scoring system for assessing possible correlation between the degree of dysplasia, the type and form of OI and DGI, and its clinical, radiographic, and microscopic manifestations was adopted by Malmgren et al. [18] He introduced a clinical radiographic score and a dysplastic dentin score for the analysis of dysplasia in dentin, keeping a score of 20-23 as normal.

Timely diagnosis and appropriate treatment is of paramount significance to prevent psychological and functional morbidity to the patient. However, the most important factor, and one which is beyond the control of the dentist, is the time the patient reports to the clinic for treatment. With advancing age, providing the patient with optimal treatment is diminished. Most of the cases affected with DGI require a comprehensive interdisciplinary planning dictated by the age at the time of presentation, clinical presentation, amount of morbidity, patient's expectations, and resources.


   Conclusion Top


The present case report describes a family affected with DGI1 over four generations. DGI is a mesodermal dental abnormality that leads to an overproduction of dystrophic dentin resulting in obliterated pulpal cavities. There is early chipping of enamel and faster attrition of dentin due to defective dentinoenamel junction and decreased mineralization of dentin. A comprehensive interdisciplinary treatment planning is required to rehabilitate patients affected with DGI.


   Acknowledgment Top


My sincere thanks to Dr. Rashi Chaturvedi for helping me in compiling the manuscript.

 
   References Top

1.Rajendran R. Developmental disturbances of oral and paraoral structures. In: Rajendran R, Sivapathasundram B, editors. Shafer's textbook of oral pathology. Elsevier; 2006. p. 75-7.  Back to cited text no. 1    
2.Prakash H, Joshi N. Oral rehabilitation in dentinogenesis imperfecta with overdentures. J Clin Pediatr Dent 1998;22:99-102.  Back to cited text no. 2    
3.Shields ED, Bixler D, El-Kafrawy AM. A proposed classification for heritable human dentine defect with a description of a new entity. Arch Oral Biol 1973;18:543-53.  Back to cited text no. 3  [PUBMED]  
4.Witkop CL jr. Amelogenesis imperfecta, dentinogenesis imperfecta and dentin dysplasia revisted: Problems in classification. J Oral Pathol 1989;17:547-53.  Back to cited text no. 4    
5.Kerebell B, Daculsi G, Menanteau J, Kerebel LM. Inorganic phase in dentinogenesis imperfecta. J Dent Res 1981;60:1655-60.  Back to cited text no. 5    
6.Mendel RW, Shawkat AH, Farman AG. Management of opalescent dentin: report of case with long time follow-up. J Am Dent Assoc 1981;102:53-5.   Back to cited text no. 6    
7.Levin LS, Leaf SH, Jelmini RJ, Rose JJ, Rosenbaum KN. Dentinogenesis imperfecta in the Brandywine isolate: Clinical radiologic and scanning electron microscopic studies of the dentition. Oral Surg 1983;56:267-74.  Back to cited text no. 7  [PUBMED]  
8.Heimler A, Sciubba J, Lieber E, Kamen S. An unusual presentation of opalescent dentin and Brandywine isolate hereditary opalescent dentin in an Ashkenazic Jewish family. Oral Surg Oral Med Oral Pathol 1985;59:608-15.  Back to cited text no. 8  [PUBMED]  
9.Guerithault SC, Jasmin JR. Dentinogenesis imperfecta type III with enamel and cementum defects. Oral Surg Oral Med Oral Pathol 1985;59:505-10.  Back to cited text no. 9    
10.Wright JT, Gantt DG. Ultrastructure of dental tissues in dentinogenesis imperfecta in man. Arch Oral Biol 1985;30:201-6.  Back to cited text no. 10  [PUBMED]  
11.Aldred MJ. Unusual dentinal changes in dentinogenesis imperfecta associated with osteogenesis imperfecta. Oral Surg Oral Med Oral Pathol 1992;73:461-4.  Back to cited text no. 11  [PUBMED]  
12.Kinney H, Pople JA, Driessen CH, Breunig M, Marshall GW, Marshall SJ. Intrafibrillar mineral may be absent in dentinogenesis imperfecta type II. J Dent Res 2001;80:1555-9.  Back to cited text no. 12    
13.Thotakura SR, Mah T, Srinivasan R, Takagi Y, Veis A, George A. The non collagenous dentin matrix proteins are involved in dentinogenesis imperfecta type II. J Dent Res 2000;79:835-9.  Back to cited text no. 13  [PUBMED]  [FULLTEXT]
14.MacDougall M, Jeffords LG, Gu TT, Knight CB, Frei G, Reus BE, et al. Genetic linkage of dentinogenesis imperfecta Type III locus to chromosome 4q. J Dent Res 1999;78:1277-82.  Back to cited text no. 14  [PUBMED]  [FULLTEXT]
15.MacDougall M, Simmons D, Luan X, Nydegger J, Feng J, Gu TT. Dentin phosphoprotein and dentin sialoprotein are cleavage products expressed from a single transcript coded by a gene on human chromosome 4: Dentin phosphoprotein DNA sequence determination. J Biol Chem 1997;272:835-42.  Back to cited text no. 15  [PUBMED]  [FULLTEXT]
16.Lygidakis NA, Oulis CJ. Scanning electron microscopy of teeth in osteogenesis imperfecta type I. Oral Surg Oral Med Oral Radiol Endod 1996;81:567-72.  Back to cited text no. 16    
17.Lindau B, Dietz W, Lundgren T, Storhaug K, Noren JG. Discrimination of morphological findings in osteogenesis imperfecta patients using combination of polarized light microscopy, microradiography and scanning electron microscopy. Int J Pediatr Dent 1999;9:253-61.  Back to cited text no. 17    
18.Malmgren B, Lindskog S. Assessment of dysplastic dentin in osteogenesis imperfecta and dentinogenesis imperfecta. Acta Odontol Scand 2003;61:72-80.  Back to cited text no. 18  [PUBMED]  

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Correspondence Address:
Sudhir Bhandari
Department of Prosthodontics, HSJ Institute of Dental Sciences and Hospital, Panjab University, Chandigarh
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0970-9290.44543

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    Figures

  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6], [Figure 7], [Figure 8], [Figure 9], [Figure 10], [Figure 11], [Figure 12], [Figure 13], [Figure 14]

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