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 Table of Contents  
Year : 2021  |  Volume : 8  |  Issue : 3  |  Page : 184-188

Nonsyndromic dentin genetic diseases: Dentinogenesis imperfecta Type III: A unique presentation of rhizomegaly, taurodontism, and dilacerated roots

1 Department of Oral Medicine and Radiology, Jaipur Dental College, MVGU, Jaipur, Rajasthan, India
2 Independent Researcher in Dentistry, Founder, Perioindia, Mumbai, Maharashtra, India

Date of Submission27-Mar-2021
Date of Decision06-Sep-2021
Date of Acceptance01-Nov-2021
Date of Web Publication30-Dec-2021

Correspondence Address:
Dr. Vela D Desai
B-406, Trimurthy Apartment, Opposite BSNL Telecom Colony, Malviya Nagar, Jaipur - 302 017, Rajasthan
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/sjoralsci.sjoralsci_17_21

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Genetic disorders of the dentin are known for several years, and reviews have been published mainly in the form of case reports. Dentinogenesis imperfecta (DI) is a disease characterized by an abnormal formation and abnormal structure of the dentin, generally affecting both primary and permanent dentition. The only epidemiological data available were published in 1975 by Witkop, who estimated the incidence of dentinogenesis imperfecta to be between 1/6000 and 1/8000. We present a case of DI III with an unusual presentation of rhizomegaly, dilacerations of the root, and taurodontism, seldom reported in the English literature for any genetic disorder of dentin. Clinical management is challenging in such cases, as the literature mentions that only an early diagnosis and early treatment with periodic follow-up can help improve the quality of life. Psychological and genetic counseling along with a multidisciplinary approach is mandatory for the cases such as the one presented here. Patient education and motivation had a paramount role in making the patient accept the treatment.

Keywords: Case report, dentinogenesis imperfecta, dilacerations, long roots, taurodontism

How to cite this article:
Desai VD, Chitguppi R. Nonsyndromic dentin genetic diseases: Dentinogenesis imperfecta Type III: A unique presentation of rhizomegaly, taurodontism, and dilacerated roots. Saudi J Oral Sci 2021;8:184-8

How to cite this URL:
Desai VD, Chitguppi R. Nonsyndromic dentin genetic diseases: Dentinogenesis imperfecta Type III: A unique presentation of rhizomegaly, taurodontism, and dilacerated roots. Saudi J Oral Sci [serial online] 2021 [cited 2022 Sep 28];8:184-8. Available from: https://www.saudijos.org/text.asp?2021/8/3/184/334293

  Introduction Top

Molecular biology and genetics studies have increased our knowledge about dental germ formation and given a broader view of spatiotemporal patterns of gene expressions and roles.[1] Dentinogenesis imperfecta (DEI) is one of the most common genetic disorders affecting the dentin. Robert and Schour coined the term “dentinogenesis imperfecta” in 1939,[2],[3],[4] where family history of the pathology is a key finding. However, sporadic cases have also been reported.[4],[5],[6],[7]

Shields et al.(1973) proposed three types of dentinogenesis imperfecta: DI Type I is associated with osteogenesis imperfecta (OI).[8] DI Type I and Type II are similar clinically, radiographically, and histologically, except that DI Type I is seen with OI; DI Type III is only found in the triracial Brandywine population of Maryland, which is quite rare. DI Type II and III have thus been suggested as differential expressions of the same gene. The Shields' system does not account for the molecular etiologies of hereditary dentin defects. Therefore, DI was reclassified as Type I and II,[1] where neither of them is associated with OI, and DI Type I corresponds to Shields Type II, and DI Type II corresponds to shields Type III, respectively. Thus, there is no substitute for DI Type I in this revised classification [Table 1].[4],[6],[8],[9],[10],[11],[12]
Table 1: Dentinogenesis imperfecta genotype and phenotype classification along with the clinical features

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Analysis by M de La Dure-Molla et al. revealed that Dentin sialophosphoprotein (DSPP)-related disease showed variable expression and severity of the same entity, because of which they proposed that all DSPP diseases are called “Dentinogenesis Imperfecta (DI)”[1] characterized by gray to brown crowns, shortened and bulbous crowns, shorter and thinner roots, attrition, and pulp alterations.

We present here a case of Dentinogenesis Imperfecta (Brandywine Type), a subtype of Type II DI (more common type), which is a result of mutation of the gene DSPP that commonly affects the people in the Eastern Shores of the USA. The presenting case here is from Northern India, with a varied feature of long roots of the premolars and molars, which are also dilacerated, contradicting the classical presentation of short roots. Another unique feature of this case is taurodontism.

  Case Report Top

A 28-year-old male [Figure 1] reported to the Department of Oral Medicine and Radiology with a complaint of discolored teeth since birth. He also complained of pain in multiple teeth. His medical records were noncontributory. There was no history of any bone pain, fracture, or history of hospitalization in the past or present. The general physical evaluation was noncontributory.
Figure 1: Extraoral profile of the patient

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The patient revealed that his grandmother, maternal aunt, and one of his siblings also had similar discolored teeth since birth. However, they were not available for clinical evaluation to confirm the same. There was a negative history of consanguineous marriage in the family. The participant is married and has two children, who apparently have a normal-appearing dentition. His primary dentition also had a similar presentation, which was recorded in his history during his earlier visit 5 years ago. He had the same complaint of discolored teeth but refused any dental treatment due to financial constraints. He revealed a history of teeth extractions done that were uneventful.

Intraoral examination revealed a blue-gray presentation of all the teeth [Figure 2]. Tooth 11 and 21 had normal size with incisal edge wear and vertical cracks in the enamel. Gross structural destruction was seen with teeth 12, 13, 14, 22, 23, 24, 34, 37, and 45. A full-mouth diagnostic intraoral radiograph was done for comprehensive evaluation [Figure 3]. A tentative diagnosis of DI was made based on a positive family history of tooth discoloration, clinical findings of generalized grayish discoloration of teeth, and generalized attrition. Written consent from the patient was sought for radiographs. The full-mouth radiograph [Figure 2] in his previous visit and orthopantomography (OPG) in his later visits confirmed interesting findings [Figure 4]. Dentition exhibiting normal thickness of enamel, extremely thin dentin, slightly bulbous crowns with the molars, drastically enlarged pulp chambers and periapical pathologies with almost all teeth, and generalized alveolar bone loss. The classical appearance of “Shell teeth” due to hypotrophy of the dentin was evident. Unlike earlier reported cases, this case had long roots, especially with all the second premolars and molars (15, 16, 17, 25, 27, 35, 37, 45, and 47) and the right central incisor.
Figure 2: (a) Blue-gray discolored upper anteriors with vertical crack lines visible in the enamel. (b) Blue-gray-colored posterior teeth with attrition. (c) Missing lower anteriors

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Figure 3: Shell teeth exhibiting normal thickness of enamel, extremely thin dentin, and markedly enlarged pulps in radiographs

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Figure 4: Radiograph shows shell teeth with multiple grossly destructed teeth

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Dilacerated roots were seen with 15, 25, 34, 35, and 47. Another finding was that the furcation area was seen much below the normal level, suggesting taurodontism with the molars, i.e., 16, 17, 27, and 47. All the third molars were missing, and there was a large well-demarcated tract-like radiolucency running from the apex of 35 till the alveolar crest of 36, depicting a sinus-like tract [Figure 2] and [Figure 4]a and [Figure 4]b. With the classical presentation of shell teeth, the diagnosis of DI Type III was made along with rizomegaly, dilaceration, and taurodontism; also, chronic generalized periodontitis and chronic periapical abscess with 35 along with a sinus tract. The participant was educated about this relatively rare disorder and motivated for dental treatment. Thorough oral prophylaxes, extraction of the teeth with poor prognosis, curettage of the periapical pathologies along with the sinus tract, removable partial denture, and restoration/endodontic therapy were planned. Prosthetic consideration for the missing teeth was planned at a later date. The extracted specimens of teeth were preserved for histopathologic evaluation and further genetic analysis. At present, the participant has undergone extractions, followed by a multidisciplinary approach involving periodontics, oral surgery, endodontics, and prosthodontic consultation to improve his quality of life.

The participant was motivated to educate his family members and seek dental assistance as early as possible if required.

  Discussion Top

The oral health professional of today is expected to clearly understand the physiology and biology of the oral cavity, to study the impact of diseases on its biophysiology, and to be aware of advances in materials techniques and medications available to treat diseases affecting it.[13] Developmental anomalies are a result of disturbances of the epithelium and mesenchymal interactions of teeth, and they can be either congenital (inherited genetically) or acquired (teeth alterations during normal formation).[14] Dentin sialoprotein and phosphophoryn, the two most dominant noncollagenous proteins found in dentin, are the cleavage products of the DSPP precursor protein.[7] DSPP mutations lead to the secretion of hypomineralized dentin and may also directly affect other mineralized tissues, namely, enamel and cementum. Enamel is considered the toughest tissue in the body that protects the crowns of the teeth to withstand heavy masticatory forces.[15] Oral parafunctional habits, which are considered to be abnormal motor activities that differ from the normal functions of the masticatory system qualitatively and quantitatively, can worsen the damage to the tooth structure in individuals with DI.[16] A study has theorized that reactionary dentin formation is exacerbated by the early loss of enamel, nearly obliterated an acellular but still vascularized DI pulp cavity. The clinical implication of this study was that, by protecting the DI teeth from external stimuli that trigger excessive secretion of dentin, one can prevent many of the pathological features of this disease, especially pulp obliteration.[10]

Dentinogenesis imperfecta (DI) or Capdepont's teeth is an autosomal-dominant trait with variable expressivity. There are three types of DI, according to Shields[8] [Table 1].

Dentinogenesis Imperfecta (Shields Type I) is unique because the features of OI characterize it. The teeth of both dentitions are typically amber-colored and translucent with significant attrition. Radiographically, the teeth have short, constricted roots, and dentin hypertrophy, leading to pulpal obliteration either before or soon after the eruption. While some teeth show total pulpal obliteration in others, the dentin appears normal.[17]

By contrast, Dentinogenesis Imperfecta (DI-II) (Shields Type II) lacks the features of OI while retaining the dental features of DI-I.

Dentinogenesis Imperfecta (DI-III) (Shields Type III) is most commonly seen in a triracial from Maryland and Washington DC known as the Brandywine isolate. This population has the highest incidence of all dental genetic diseases at 1 in 15.[9] The primary teeth show multiple pulp exposures, and radiographically, they often present as “shell” teeth, i.e., hollow teeth due to hypotrophy of the dentin. Other features are similar to DI-I and II. However, DI-II and DI-III could be found in the same family and even in the same patient.[18] Dong et al.[19] showed a DSPP variant in a Brandywine DI-III family, confirming the allelic relation between DI-II and DI-III.

In the present case, teeth also had dilacerated roots, rhizomegaly, and taurodontism, which are not reported earlier in DI cases. The biological basis for this unique finding in the same patient is unknown. It could be coincidental or a new feature of DI, which needs to be explored further.

The etiology proposed for DI was that the permeability of enamel and dentin leads to pathological bacteria inducing necrosis and pulpal obliteration.[17] However, the interpretation was not satisfactory since it did not consider the cellular and molecular features of this pathology.[1],[20] Silva et al.[21] proved that dentin proteins recruit neutrophils for chemotaxis under pathology.

Histological studies of these teeth showed few and large dentinal tubules running in various directions with a tubular area. Enamel fractures occurred along the striae of Retzius, where prisms are discontinued.[22] Altered enamel–dentin junction explains enamel chipping. High-resolution synchrotron radiation computed tomography, and small-angle X-ray scattering showed anomalies of shape and thickness of crystallites.[1],[23],[24] Restoring the dental defects associated with DI is very critical. The treatment varies according to the age, the severity of the problem, and presenting complaints. Many treatment modalities have been suggested.[25] Further research and clinical trials should clarify the effect of dentin hypomineralization (developmental conditions such as DI and acquired conditions such as fluorosis) on dentin bond strengths of different types of adhesive systems.[13],[14],[15],[16],[26]

In the present case, we could ascertain the progression of tooth destruction by radiographic (intraoral periapical and OPG) comparison, and the patient lost many teeth due to refusal or delay in the treatment.

The limitations of this case are that the family members are not evaluated to confirm the findings, genetic studies were out of the patient's reach, and histological studies of the case also could have been carried out.

  Conclusion Top

We present a case of Dentinogenesis Imperfecta (Brandywine Type), a subtype of Type II DI, which is commonly seen in the Eastern Shores of the USA. The case presented here is from Northern India with several unique features – long roots of the premolars and molars, which are also dilacerated, contradicting the classical presentation of short roots. Taurodontism was another unique feature found in this case. Reporting such interesting cases is essential as it improves our understanding of the cases and adds to our current knowledge.

Ethical committee statement

Ethical approval to report this case was obtained from the institutional ethical committee.

Statement of informed consent

Written informed consent was obtained from the patient (s) for their anonymized information to be published in this article.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient has given his consent for his images and other clinical information to be reported in the journal. The patient understands that their name and initial will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Financial support and sponsorship


Conflicts of interest

There are no conflicts of interest.

  References Top

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  [Figure 1], [Figure 2], [Figure 3], [Figure 4]

  [Table 1]


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