International Journal of Dental Science and Clinical Research (IJDSCR)

Dr. Angel Vaidic Publication

Available Online at: http://www.ijdscr.org
Volume - 5, Issue – 1, February - 2023, Page No. : 18 – 24

Dentin Dysplasia Type 1: Case Report of a Rare Familial Genetic Disorder

1
Dr. Anumita Deka, 2Dr. Vinay Mohan, 3Dr. Anuj Gaur, 4Dr. Garima Singhal, 5Dr. Nirmala Khanal, 6Dr.
Sameeksha Bhardwaj
1,4,5,6
PG Scholar, Department of Oral Medicine and Radiology, K.D Dental College and Hospital, Mathura, UP, India
2
Professor and Head of Department, Department of Oral Medicine and Radiology, K.D Dental College and Hospital,
Mathura, UP, India
3
Reader, Department of Oral Medicine and Radiology, K.D Dental College and Hospital, Mathura, UP, India
Citation of this Article: Dr. Anumita Deka, Dr. Vinay Mohan, Dr. Anuj Gaur, Dr. Garima Singhal, Dr. Nirmala
Khanal, Dr. Sameeksha Bhardwaj, “Dentin Dysplasia Type 1: Case Report of a Rare Familial Genetic Disorder.’’
IJDSCR – February – 2023, Vol. – 5, Issue - 1, Page No. 18-24.
Copyright: © 2023, Dr. Anumita Deka, et al. This is an open access journal and article distributed under the terms of
the creative commons attribution noncommercial License. This allows others to remix, tweak, and build upon the work
non commercially, as long as appropriate credit is given and the new creations are licensed under the identical terms.
Corresponding Author: Dr. Anumita Deka, PG Scholar, Department of Oral Medicine and Radiology, K.D Dental
College and Hospital, Mathura, UP, India
Type of Publication: A Case Report
Conflicts of Interest: Nil
ABSTRACT INTRODUCTION
An uncommon inherited disorder of dentin production The body of a tooth is made up of dentin, a
called dentin dysplasia is characterised by mineralized tissue that protects the pulp and supports
spontaneous dental abscesses or cysts, extreme the cementum and enamel that are placed on top.
hypermobility of the teeth, and faulty dentin Approximately one patient in 100,000 suffers from
development with clinically normal-appearing crowns. Dentin Dysplasia (DD), a rare aberration that is an
According to radiographic study, all pulp chambers autosomal dominant hereditary disorder in dentin
have been destroyed by pulp stones, and non-caries development that can affect either the primary or both
teeth have peri-apical radiolucencies and short, dentitions. There is still a lack of knowledge on the
blunted, or deformed roots. The clinical and molecular causes of DD type I. Single families have
radiographic results of a case of dentin dysplasia type been reported to have dominant mutations in VPS4B
1 in two siblings are presented in this paper. and SSUH2 and recessive mutations in SMOC2.
Keywords: Dentin dysplasia, dentin, rootless teeth, Therefore, more investigation is needed to pinpoint
pulpal obliteration. the precise function of these genes in the development
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of dentin.1 Ballschmiedel initially wrote about it in

Corresponding Author: Dr. Anumita Deka, Volume – 5, Issue - 1, Page No. 18 – 24

Dr. Anumita Deka, et al. International Journal of Dental Sciences and Clinical Research (IJDSCR)
1922, describing six children in one household who
had what he dubbed "rootless teeth"—teeth with short,
blunted roots and pulpal occlusion.2 Later, Rushton
used the term "dental dysplasia" to describe a
comparable issue in a person without any indication of
genetic inheritance. Type I, or "dentin dysplasia," and
type II, or "anomalous dysplasia of dentin," were
proposed by Shields et al. Later, Witkop used the
terms "radicular dentin dysplasia" and "coronal dentin
dysplasia" to designate the primary affected areas of
the teeth. The terms "dentin dysplasia type III" were
proposed for two disorders that were characterised by
4
Eastman et al. in 1977 and Ciola et al. in 1978.
Dentin dysplasia types I and II have radiographic
results that are similar, and Ciola et al. advocated
classifying these patients under type III.2
However, there was positive history of similar dental
conditions in their mother, and maternal grandmother;
where there was spontaneous early exfoliation of teeth
© 2023 IJDSCR, All Rights Reserved
CASE REPORT
Two female patients, one of whom had missing teeth
in the upper front region of her jaw and the other of
whom had teeth that were irregularly positioned in
both her upper and lower jaw, reported to our
outpatient department at the ages of 18 and 16,
respectively. The 18-year-old patient revealed that she
suffered a minor facial injury when she was 15 years
old that caused her to lose her top anterior teeth. Her
younger sibling said that she had had misaligned teeth
since she was 13 years old. They had no prior history
of experiencing any other tooth-related complaints.
Both siblings' medical and dental histories were not
relevant.
by the age of 30 in both their mother and grandmother
with misalignment of teeth at an early age.
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Dr. Anumita Deka, et al. International Journal of Dental Sciences and Clinical Research (IJDSCR)
Clinical evaluation of the first sibling revealed that
she weighed 49 kgs and was 4 feet 9 inches tall. She
had hirsutism-related characteristics and an
ectomorphic build.The second sibling was 5 feet 1
inches tall and weighed 42 kilogrammes. She also
possessed an ectomorphic physique and hirsutism-
related traits. Their hypoplastic maxillas,
dolicocephalic heads, and concave profiles were
discovered during extraoral examinations. Intraoral
examination of sibling 1 revealed numerous clinically
In the second sibling the clinically missing teeth were
the maxillary and mandibular premolars. There was
also presence of a few retained deciduous teeth in both
© 2023 IJDSCR, All Rights Reserved
missing permanent teeth including the maxillary
incisors, premolars and molars along with retained
deciduoud molars in both the maxilla and mandible.
She displayed a class III molar relation along with a
posterior open bite. In the second sibling the clinically
missing teeth were the maxillary and mandibular premolars.
There was also presence of a few retained deciduous teeth
in both the arches which were mainly the canines and
molars. She also revealed a angles’s class III molar relation
along with both anterior and posterior open bite.
the arches which were mainly the canines and molars.
She also revealed a angles’s class III molar relation
along with both anterior and posterior open bite.
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Dr. Anumita Deka, et al. International Journal of Dental Sciences and Clinical Research (IJDSCR)

Based on the history and clinical examination of both
the patients, a provisional diagnosis of oligodontia for
the elder sibling and Angle’s class III malocclusion
with multiple retained deciduous teeth for the younger
sibling was given.
Radiographs of both the siblings were taken which
included panoramic and lateral cephalogram.
Panoramic radiograph of the first sibling revealed
short, blunt, conical and malformed roots with pulpal
obliteration in all the teeth, deviated nasal septum,
altered trabeculae pattern in the mandible and pulp
stones irt 16 and 26 along with underdeveloped
maxilla and mandible.

Figure 5: Panoramic radiograph of sibling 1

Panoramic radiograph of the second sibling revealed obliteration present in all the teeth along with an
short, blunt, conical and malformed roots with pulpal underdeveloped maxilla.
21

Figure 6: Panoramic radiograph of sibling 2

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© 2023 IJDSCR, All Rights Reserved

Dr. Anumita Deka, et al. International Journal of Dental Sciences and Clinical Research (IJDSCR)
Lateral cephalogram of sibling 1 revealed prognathic hypoplastic maxilla.
mandible with anterior and posterior open bite and a

Figure 7: Lateral cephalogram of sibling 1

Lateral cephalogram of the younger sibling revealed a and posterior open bite.
hypoplastic maxilla, prognathic mandible and anterior

Figure 8: Lateral cephalogram of sibling 2

Hence, based on the history, clinical findings and Both the patients were counselled about their
radiographic analysis the final diagnosis of DENTIN condition and informed of their diagnosis and
DYSPLASIA TYPE 1 (RADICULAR) was made for treatment plans for them was devised. For the first
22

both the patients. sibling dietary and oral hygiene instructions were
Page

© 2023 IJDSCR, All Rights Reserved

Dr. Anumita Deka, et al. International Journal of Dental Sciences and Clinical Research (IJDSCR)
advised along with oral prophylaxis and fabrication of
partial denture prosthesis for her missing teeth. The
younger sibling was also given instructions for dietary
and oral hygiene maintainence along with oral
prophylaxis. She was also adviced for treatment of her
dento-skeletal abnormality but due to financial
hesitations she refused treatment.
DISCUSSION
Dentin dysplasia is uncommon, occurring 1 in
100,000 times.3 While permanent teeth in Type 2 or
coronal dentin dysplasia appear morphologically
normal with normal roots but have pulp chambers that
are shaped like a "thistle tube," Type 1 or radicular
dentin dysplasia causes crowns that appear
morphologically normal but have incomplete or
complete obliteration of the pulp chambers and
2
premature exfoliation of the teeth. There are a few
systemic conditions like calsinosis universalis,
rheumatoid arthritis, vitamin D deficiency, sclerotic
bone and skeletal anomalies, and tumour calcinosis
that are also associated with dentin dysplasia, but no
such findings were discovered in the patients upon
general and radiological examination.7 Osteogenesis
imperfecta, dentinogenesis imperfecta, and
odontodysplasia are among the differential diagnoses
© 2023 IJDSCR, All Rights Reserved
taken into account.4 Additionally, a class III
malocclusion with an incomplete overbite was seen in
both the patients. Although it has been documented in
some cases, malocclusion is not specifically
recognised as a DD feature. Dentists have faced a
number of challenges when it comes to treating
individuals with dentin dysplasia. A treatment option
for teeth with pulp necrosis and periapical abscess has
been suggested: extraction.3 Endodontic therapy is not
recommended for teeth with completely destroyed
pulp chambers and root canals.9 Another option for
treatment in dentin dysplasia is normal conservative
care and follow-up. Orthodontic therapy is advised,
but because the small roots resist the orthodontic
forces, more root resorption, tooth loosening, and
premature exfoliation may take place. Following
extraction, full dentures enable successful dental
rehabilitation. Following the removal of all teeth and
curettage of cysts, successful oral rehabilitation with a
full denture has also been suggested5
FAMILY PEDIGREE
As it is a autosomal dominant disorder and there was
familial history of the disease in their mother and
maternal grandmother, so the patients were considered
to be third generation sufferers.
23
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Dr. Anumita Deka, et al. International Journal of Dental Sciences and Clinical Research (IJDSCR)
CONCLUSION ID 902861, 4 pages, 2013. https://doi.org/10.1155/
A rare condition of the dentin known as dentin 2013/902861.
dysplasia type I causes teeth to exfoliate too soon. The 6. Fulari SG, Tambake DP. Rootless teeth: Dentin
goal of treating dentin dysplasia is to provide dysplasia type I. Contemp Clin Dent.
excellent preventive therapy since periodontitis and 2013;4(4):520-522. doi:10.4103/0976-
shorter roots cause teeth to fall out early. Therefore, 237X.123063.
strict food guidelines and oral hygiene standards must 7. L. Özer, H. Karasu, K. Aras, B. Tokman, and E.
be created and upheld. In this regard, dentists play a Ersoy, “Dentin dysplasia type I: report of atypical
crucial role in the early detection of this condition and cases in the permanent and mixed
in assisting patients in making decisions about the best dentitions,” Oral Surgery, Oral Medicine, Oral
ways to preserve the damaged teeth.8 Pathology, Oral Radiology and Endodontology,
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