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 Table of Contents  
Year : 2017  |  Volume : 29  |  Issue : 2  |  Page : 132-134

Dentin dysplasia type II: An exclusive report of two cases in siblings

1 Department of Oral Medicine and Radiology, Malabar Dental College, Edappal, Kerala, India
2 Department of Oral Medicine and Radiology, Kanti Devi Dental College and Hospital, Mathura, Uttar Pradesh, India
3 Department of Oral Medicine and Radiology, New Horizon Dental College and Research Institute, Bilaspur, Chhattisgarh, India

Date of Submission21-Mar-2016
Date of Acceptance24-Oct-2017
Date of Web Publication9-Nov-2017

Correspondence Address:
Deepak Daryani
Department of Oral Medicine and Radiology, KMCT Dental College, Kozhikode, Kerala
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/jiaomr.JIAOMR_23_16

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Dentin dysplasia is a rare autosomal dominant disorder affecting dentin and resulting in early loss of teeth. Although dentin dysplasia type I is reported to have an incidence of 1 in 100,000, dentin dysplasia type II is considered to be an extremely rare genetic disorder, the prevalence of which is not clearly reported in the literature so far. Moreover, there remains a lot of controversy regarding classification, terminologies, treatment options, and prognosis of dentin dysplasia. We present here an exclusive report and management by full mouth rehabilitation of two cases of dentin dysplasia type II in siblings with some peculiar clinical characteristics, making it one of a kind of case reports documented so far.

Keywords: Dentin, development, disorder, dysplasia, teeth

How to cite this article:
Daryani D, Nair GR, Naidu G. Dentin dysplasia type II: An exclusive report of two cases in siblings. J Indian Acad Oral Med Radiol 2017;29:132-4

How to cite this URL:
Daryani D, Nair GR, Naidu G. Dentin dysplasia type II: An exclusive report of two cases in siblings. J Indian Acad Oral Med Radiol [serial online] 2017 [cited 2021 Jul 29];29:132-4. Available from: https://www.jiaomr.in/text.asp?2017/29/2/132/217913

   Introduction Top

Hereditary dentin defects have been classified as three types of dentinogenesis imperfecta (DGI), i.e., type I, type II, and type III, and two types of dentin dysplasia (DD), i.e., type I and type II. DD is a rare disturbance of dentin formation characterized by normal enamel but atypical dentin formation with abnormal pulpal morphology.[1] DD type I, first described by Ballschmeide as rootless teeth, primarily affects the root portions of both the primary and permanent teeth and produces teeth with shortened roots and periapical radiolucencies.[2] DD type II, also called coronal dentin dysplasia, is characterized by large coronal pulp chambers containing denticles in permanent teeth and total obliteration of pulp chambers in primary teeth. The incidence of DD type I is 1 in 100,000.[3] DD type II is considered to be much rarer and a definite incidence rate has not been reported so far.[4] Here, we present an exclusive case report and management by full mouth rehabilitation of DD type II in siblings. In addition, some peculiar clinical characteristics are discussed along with differential diagnosis, making this case report unique among similar publications documented so far.

   Case Report Top

Two female siblings, 15 years and 19 years [Figure 1] reported with the complaint of multiple decayed teeth. They noticed the decay since they were 10 years old. There were no other associated symptoms. They gave a medical history of consulting a physician 5 years back for short stature when they were diagnosed with hypocalcemia. The past dental history from parents revealed early exfoliation of deciduous teeth, however, there was no exfoliation of permanent teeth. Their parents had 7 children from a nonconsanguineous marriage, however, only two of them were affected with short stature and multiple decayed teeth. Siblings' maternal grandmother also had the similar condition [Figure 2]. The affected siblings had normal antenatal, natal, and postnatal history with normal milestones and normal psychological status with respect to age. General examination revealed all vital signs within normal range, with no pallor, icterus, cyanosis, clubbing, or edema. Their heights were 135 cm and 133 cm with sparse distribution of body hair.
Figure 1: Extraoral photograph of cases 1 and 2

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Figure 2: Family pedigree chart showing the affected individuals in black color

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Extraoral examination suggested proportionate craniofacial features with normal temporomandibular joint and lymph nodes, however, both the siblings had a short neck. Intraoral examination revealed poor oral hygiene with generalized gingivitis. Both the siblings had partial ankyloglossia. On intraoral examination, multiple root stumps were noticed with few unaffected and few missing teeth (oligodontia). All the unaffected teeth were microdonts with normal shape [Figure 3]. The examination of microdonts revealed enamel with normal color, texture, and consistency with minimum attrition. There was no pitting or softening of enamel. On electric pulp vitality testing, all microdonts were found to be vital. Considering poor oral hygiene and multiple decayed teeth, a provisional diagnosis of rampant caries was made. Differential diagnoses considered were hereditary ectodermal dysplasia, DGI, DD, hypoparathyroidism, and pseudohypoparathyroidism.
Figure 3: Intraoral image of cases 1 and 2 showing multiple grossly decayed teeth

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Complete blood hemogram along with biochemical analysis of serum alkaline phosphatase, thyroid stimulating hormone, creatinine, calcium, phosphorus, parathormone, and calcitonin along with blood urea, random blood sugar, and urine analysis revealed no abnormality; however, serum calcium was towards the lower side i.e., 8.1 mg/dl and 7.4 mg/dl. Radiographic investigations which included panoramic radiographs along with multiple intraoral periapical radiograph revealed teeth having normal enamel thickness, however, the dentin was very thin. Pulp chambers were enlarged and extending into the roots, however, the root length was normal. Sudden constriction was noticed at the base of the pulp chamber along with very thin root canals revealing a typical “thistle tube appearance.” Also appreciated was pulp stones in the enlarged pulp chambers [Figure 4]. Radiographs of the skull and peripheries were also taken to evaluate general bone status. Although no abnormality was noted in the skull radiographs, the hand wrist radiograph revealed erosions of the phalanges.
Figure 4: Panoramic radiograph showing normal enamel, thin dentine, enlarged pulp chambers extending into the roots of normal length. Sudden constriction at the base of pulp chamber along with very thin root canals giving a typical “thistle tube appearance”

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Considering autosomal dominant trait of disorder (i.e., two siblings and maternal grandmother) with normal enamel, thin dentin, enlarged pulp chambers, sudden constriction of pulp chamber, thistle tube appearance, and pulp stones, a radiological diagnosis of DD type 2 was established. In addition, the presence of short stature, osteolytic changes seen in the phalanges, and normal serum biochemical presentation (serum calcium on the lower side) led the orthopedicians to establish a clinical diagnosis of pseudohypoparathyroidism; however, the investigatory findings were not suggestive of it.

Grossly decayed teeth were extracted and subjected to histopathological examination. Detailed microscopic examination revealed normal enamel with areas of abnormal calcification in dentine and pulp stones. Entrapped cells were seen within lacunae suggestive of osteodentin. Breakup between predentin and dentin was also noticed [Figure 5]. Ground section showed dentinal tubules arranged irregularly, suggesting the diagnosis of DD type II. Intentional root canal therapy was done in all the remaining teeth, and metal coping was placed in each of them. Complete overdenture was fabricated for maxillary and mandibular arches [Figure 6]. Patients were followed up for 1 year, however, there were no related complications.
Figure 5: H and E staining revealed normal enamel with areas of abnormal calcification in dentine and pulp stones. Entrapped cells were seen within lacunae suggestive of osteodentin

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Figure 6: Metal coping was placed over endodontically treated teeth. Overdenture was fabricated for maxillary and mandibular arches

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   Discussion Top

DD type II is an inherited autosomal dominant disorder affecting the orientation of dentin tubules.[5] The primary teeth are amber and translucent, with pulp chambers obliterated by abnormal dentin making them indistinguishable from DGI.[6] Although the permanent dentition is clinically normal, they are highly susceptible to attrition due to abnormal dentine. In our case, there was familial predisposition along with early exfoliation of deciduous teeth and loss of teeth structure of permanent teeth. The peculiarity noticed in our case was the presence of microdonts among permanent dentition and partial ankyloglossia.

The presence of multiple decayed teeth along with poor oral hygiene in young patient led us to give a provisional diagnosis of rampant caries. Because the patients were siblings with oligodontia, microdontia with normal enamel surface, and having sparse axillary and pubic hair, hereditary ectodermal dysplasia (mild form) was considered first in differential diagnosis. Since the disease affected siblings and maternal grandmother, an autosomal dominant disorder was considered. As the enamel of unaffected teeth were normal in color, texture, and consistency, DGI and DD were also considered. The presence of short stature and history of hypocalcemia in siblings made us include hypoparathyroidism and pseudohypoparathyroidism related dental anomalies as well in the differential diagnosis.

The radiological evidence of enlarged pulp chamber extending into roots, thistle tube appearance of pulp chamber, and root canal in multiple teeth along with presence of pulp stones and normal root length were typical of DD type II. However, further radiological evidence of bony erosions in phalanges were peculiar. The histopathological evidence of irregularly arranged dentinal tubules along with presence of entrapped lacunae suggestive of osteodentin confirmed our diagnosis of DD type II. The ideal long-term management of such patients should be by multiple implants along with fixed or removable prosthesis.[7] However, taking into consideration the age and poor financial status of patients, multiple intentional root canal therapies along with copings and overdenture was considered.

   Conclusion Top

DD type II has been described in literature as an extremely rare genetic disorder the incidence of which is not clearly reported. The presence of short stature, ankyloglossia, sparse body hair, history of hypocalcemia, and bony erosions of phalanges along with the typical findings of DD type 2 makes this case unique. After a thorough literature search, we are still unable to find a similar case reported before, making it an extremely peculiar and interesting case demanding documentation.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials 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

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.  Back to cited text no. 1
Witkop CJ. Hereditary defects in enamel and dentin. Acta Genet Stat Med 1957;7:236-9.  Back to cited text no. 2
Rajendran R. Developmental disturbances of oral and paraoral structures. In: Rajendran R, Sivapathasundharam B, editors. Shafer's Textbook of Oral Pathology. 7th ed. New Delhi: Elsevier; 2014. p. 57-8.  Back to cited text no. 3
Kim JW, Simmer JP. Hereditary dentin defects. J Dent Res 2007;86:392-9.  Back to cited text no. 4
Rushton MA. A case of dentinal dysplasia. Guy's Hospital Report 1939;89:369-73.  Back to cited text no. 5
Witkop CJ Jr. Amelogenesis imperfecta, dentinogenesis imperfecta and dentin dysplasia revisited: Problems in classification. J Oral Pathol 1989;17:547-53.  Back to cited text no. 6
Depprich RA, Ommerborn MA, Handschel JG, Naujoks CD, Meyer U, et al. Dentin dysplasia type I: A challenge for treatment with dental implants. Head Face Med 2007;3:31.  Back to cited text no. 7


  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6]


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