Ultrastructural Pathology, Early Online, 1–5, 2015

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ISSN: 0191-3123 print / 1521-0758 online
DOI: 10.3109/01913123.2014.1002960

C ASE REPORT

Histological and Ultrastructure Analysis of Dentin

Dysplasia Type I in Primary Teeth: A Case Report
Andrea Pintor, MSc1, Adilis Alexandria, MSc1, Andrea Marques, Dr1,
Aline Abrahao, PhD2, Fabio Guedes, PhD2, and Laura Primo, PhD1

1
Department of Pediatric Dentistry and Orthodontics and 2Department of Oral Pathology, School of Dentistry,
Federal University of Rio de Janeiro, Rio de Janeiro, Brazil
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ABSTRACT
Dentin dysplasia type I (DD-I) is a rare human dentin disorder that may affect both the primary and permanent
dentitions. The teeth present crowns with normal morphology but short or absent roots. Pulp chamber
obliteration and early exfoliation of primary teeth are also observed. We describe herein the typical and atypical
features of DD-I presented by a 6-year-old patient, the diagnostic rationale and assessment emphasizing the
histological and scanning electron microscopic analysis and the therapeutic approach. The DD-I diagnosis in
patients in the mixed dentition period is challenging, especially when only some teeth are affected.
Keywords: Dentin dysplasia, dentition, electron scanning, histology, microscopy, primary
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Dentin dysplasia type I (DD-I) is a rare hereditary
disorder that affects dentin formation. This pathology
is widely associated with an autosomal dominant trait
[1], although it has recently been associated with a
recessive mode of inheritance [2]. DD-I is an anomaly
of unknown etiology that affects patients at a ratio
of 1:100,000 and is characterized by teeth that present
normal crown morphology and color but with
affected roots [1,3]. They are typically short, sharp
and frequently associated with periapical lesions in
non-carious teeth. Pulp chamber obliteration and the
early exfoliation of primary teeth are also observed
signs [1,4].
In this study, we describe the typical features, such
as primary molars with normal crown morphology
and color that present short roots with associated
periapical radiolucencies and the atypical features,
such as near-normal pulp chambers without pulp
stones, of a DD-I patient. The diagnostic challenges,
rationale, assessment and therapeutic approach are
reported. The patient was evaluated clinically for the
common blood and urine parameters, for total
Streptococci, Streptococcus mutans and Lactobacillus
counts in the dental biofilm and saliva and for
salivary flow rate. An extracted primary molar
was evaluated using histological and scanning elec-
tron microscopic (SEM) analysis. This report was
performed according to the CARE Statement [5].
CASE REPORT
A female child, six years and nine months of age, was
brought by her father to the Pediatric Dental Clinic of
the Federal University of Rio de Janeiro with the chief
complaint of multiple caries lesions and pain asso-
ciated with the ingestion of hard foods. The mother’s
medical and pregnancy history revealed that she had
been using anticonvulsant medication (100 mg of
phenobarbital, GardenalÕ , Sanofi-Aventis LTDA, São
Paulo, Brazil) since she was 13 years old, but no other
abnormalities were reported. The child’s general
health was considered to be good, with no identified
diseases. The main clinical intra-oral examination and
the panoramic X-ray observations are listed in Table 1
and shown in Figure 1.
On the basis of the clinical and radiographic
evaluations, the following diagnostic hypotheses
were considered: self-mutilation habits, hypopho-
sphatasia, Papillon–Lefèvre syndrome, diabetes

Received 10 November 2014; Revised 21 November 2014; Accepted 19 December 2014; Published online 9 April 2015
Correspondence: Laura Primo, PhD, Department of Pediatric Dentistry and Orthodontics, School of Dentistry, Federal University of Rio de
Janeiro, Rio de Janeiro 21941-913, Brazil. E-mail: lprimo@pobox.com

1
 2 A. Pintor et al.

mellitus, histiocytosis X, neutropenia and leukemia.
The patient was referred to the Pediatric Hospital for a
clinical evaluation and blood and urine examinations.
Meanwhile, the child’s salivary flow was evaluated
as well as the oral microbiota associated with the
primary mandibular right second molar and the
primary mandibular left second molar. In addition,
the patient underwent dental procedures for the
adequacy of the oral environment and preventive
orthodontic treatment.
TABLE 1. Main clinical intra-oral examination and the
panoramic X-ray observations.
Oral examination Radiographic examination
Severe gum recession on the All permanent teeth were in
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The blood and urine laboratory exam values were
normal. Therefore, none of the systemic diseases were
confirmed. In addition, Papillon–Lefèvre syndrome
was discarded as palmoplantar keratosis was not
observed.
The oral microbiota for total Streptococci, S. mutans
and Lactobacillus counts in dental biofilm and
saliva were evaluated. The results for unstimulated
and stimulated salivary flow rates were also evalu-
ated. There were no differences in the microorganism
counts and salivary flow rates between the
patient and the normal levels, as verified in the
literature [6,7].
Then, the primary molars’ root malformations were
considered to be a possible diagnostic factor. Dentinal
dysplasia type I was investigated with histological

lower right region asso- normal evolution
ciated with the extreme Primary molars with acceler-
mobility of teeth 85 ated ‘‘root resorption’’
and 84 Radiolucent periapical images
Most primary teeth pre- associated with teeth
sented carious lesions 75 and 85
and mobility Tooth 85 was associated with
severe alveolar bone
destruction, which reached
the developing germ of
permanent tooth 45
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analysis of the extracted primary mandibular right
second molar. This tooth was sectioned longitudinally
in two halves on a microtome (CUT 5062, Slee, Mainz,
Germany). One half was designated for histological
evaluation and the other for SEM analysis. The
sample for histological analysis was decalcified,
dehydrated in ascending grades of ethanol, clarified
and embedded in paraffin. The tissue block was cut
into 5-mm thick slices and stained with hematoxylin
and eosin. Histological sections were analyzed using

FIGURE 1. Panel showing oral photographs and panoramic radiographs of a DD-I patient. (A) Initial, A1 – superior occlusal view,
A2 – inferior occlusal view, A3 – tooth T with severe mobility and gum recession, showing the permanent tooth crown beneath and A4
– panoramic X-ray. (B) Final, B1 – superior occlusal view, B2 – inferior occlusal view and B3 – panoramic X-ray.

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FIGURE 2. Photomicrographs of DD-I showing the interglobular dysplastic dentin (IDD) surrounded by less mineralized areas, with
tortuous and discontinuous dentinal tubules (DT). (A) H&E, original magnification 400, crown dentin, (B) crown dentin near the
pulp chamber showing the dentin dysplasia features, SEM image (500), (C) root dentin near the pulp chamber showing the dentin
dysplasia features, SEM image (500) and (D) root dentin final portion, showing amorphous and disorganized tissue.

optic microscopy (Leica DM500Õ , Heerbrugg,
Switzerland) and showed the presence of dentinal
dysplasia characterized by an interglobular dysplastic
dentin surrounded by less mineralized areas,
with tortuous and discontinuous dentinal tubules
(Figure 2).
The SEM analysis was performed at 15 Kv, with a
secondary electron signal (Scanning Electron
Microscope, JSM-64 60LV, JEOL, Medford, MA). The
sample was dehydrated in a desiccator for two days,
and SEM was performed without sample metalliza-
tion for the identification of the desired regions of
interest. The images were taken close to the pulp
chamber, above the cemento-enamel junction (CEJ) at
the crown dentin, below the CEJ at the root dentin and
at the final portion of the roots. The images (500) of
the crown and the root dentin close to the pulp
chamber confirmed the histologic dysplastic features
presented by the dentin tissue, compatible with a
diagnosis of DD-I. Dentinal tubules were not observed
at the root dentin. The images of the final portion of
the roots (500) revealed entirely disorganized
amorphous tissue (Figure 2).
The dental team examined the parents and the 13-
year-old sister and obtained panoramic radiographs.
There were no signs of DD-I, although they reported
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that their older daughter also presented dental
problems when she was little. The patient and her
family were referred to the Genetic Unit of the
University Hospital for evaluation and counseling.
The patient had the primary mandibular right
second molar and the primary mandibular left second
molar extracted and prematurely lost the primary
maxillary right canine, the primary maxillary left
canine, the primary mandibular left canine and
primary mandibular right first molar. The remaining
primary molars were restored. The patient returned at
three-month intervals for dental prophylaxis, topical
fluoride application and oral evaluation. The one-year
follow-up panoramic X-ray exam showed the retained
primary molars, maxillary right second molar, max-
illary right first molar, maxillary left second molar and
mandibular left first molar, the development of
the permanent teeth and normal periapical tissues
(Figure 1).
DISCUSSION
We considered our patient to be the first DD-I family
member in accordance with some case reports of
DD-I patients as first generation sufferers found in
 4 A. Pintor et al.
literature [8,11]. The main radiographic findings of
our patient were normal pulp chambers without pulp
nodules or stones, short, blunt or almost absent roots
as features presented only by the primary molars and
periapical radiolucent areas associated with these
teeth. These features were not compatible with the
subtypes previously described by Neville et al. (2008)
[4]; therefore, the classification was not possible.
Rocha et al. reported similar findings associated to
the permanent dentition [9].
There is a variable expression of DD-I. Some
patients present all permanent teeth with altered
root formation pattern [8,10,11], and others present
only a group of teeth affected [9]. Our patient was in
the mixed dentition period, and the affected primary
molars also presented carious cavities. The patient’s
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oral features along with clinical and radiographic
criteria made a diagnosis of DD-I [10] more difficult.
The histological analysis was fundamental to the final
diagnostic result. The analysis showed interglobular
dysplastic dentin surrounded by less mineralized
areas, with tortuous and discontinuous dentinal
tubules. This result agrees with the atypical tubular
pattern showed by the deeper dentin of extracted
primary teeth with DD-I [8]. The SEM analysis
confirmed the histological findings. The SEM results
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were similar to those reported by Melnick et al. [12].
They described the SEM observations of deciduous
teeth of three unrelated persons with DD-I. One
presented dysplastic dentin with dentinal tubules,
similar to our findings. The other two described SEM
results that showed the presence of calcified masses of
dentin with irregularly placed and shaped spaces
between them for one patient and dysplastic masses
resembling wood knots for the other. Our SEM
findings allowed for the observation of the final root
portion, which exhibited totally disorganized and
amorphous tissue. As far as we know, the images of
this region of interest without a previous metal
covering are the first to be published.
The SEM images taken from dental [12] and other
oral tissues [13,14] enable the observation of their
three-dimensional topography and ultrastructure [15].
Thus the new perspective contributes to the morpho-
logic understanding meanwhile enlightens the func-
tional and physiopathology aspects. The results of the
study by Asikainen et al. [13] with oral epithelial cells
showed a sophisticated ability of a cell structure. The
microplicae of the apical cell membrane adjacent to
saliva interface may play an important role in the
functionality of the oral mucosa tissue, both in cell
signaling and saliva interchange. On the other hand,
our results showed a failed attempt of odontoblasts to
perform their function, dentin formation. The origi-
nated tissue lacked proper morphology. The dentinal
tubules were tortuous and discontinuous on the initial
dentin layers, close to the pulp chamber. In the deeper
layers, the tubules were absent. At the final root
portion, the observed tissue was disorganized, keep-
ing no similarity to dentin.
The molecular etiology of DD-I is still unknown. So
far, it was observed that the initial dentin layer
deposition is normal, then sudden odontoblast death
occurs and a cycle of new odontoblast recruitment
occurs, dentin formation and cell death follows
repeatedly in an attempt to complete dentin formation
[3]. This pathology is in the group of the dentin-
inherited defects classified according to the clinical
and radiographic signs in dentinal dysplasias DD
(types I and II) and dentinogenesis imperfecta (DGI;
types I–III) [16]. In dentinal dysplasias classified as
DD-I, teeth clinically show normal crowns, but the
roots are short in length, blunt or almost absent [1,16].
In DD-II, teeth show normal root length, and the
crowns of deciduous teeth present altered features
similar to those observed in DGI-I and DGI-II, such as
discoloration and attrition; however, DD-II permanent
teeth may be normal in shape and color, with thistle-
tube deformed pulp cavities and pulp stones [1,16].
The genetic etiology of DD-II was identified and
associated with a mutation of the dentin sialopho-
sphoprotein gene, a gene encoding the major non-
collagenous proteins of dentin [1]. Efforts should be
made to identify the DD-I etiology and to correlate
possible altered clinical signs and parameters to the
disease. The blood and urine exams, the oral micro-
biota and salivary flow evaluation of our patient did
not reveal any abnormalities.
The management of DD-I patients requires an
individual approach associated with the expression
presented. Control of tooth mobility, teeth preserva-
tion and minimizing discomfort during mastication
are treatment objectives common for both primary
and permanent dentitions. The continuous follow-up
of the DD-I patient by the dental team is essential for
treatment success.
DD-I presents a variable spectrum of expression.
The DD-I diagnosis in patients in the mixed dentition
period is challenging, especially when only some
teeth are affected. A thorough clinical and radio-
graphic evaluation is required and should be asso-
ciated with a histological analysis of teeth whenever
possible.
DECLARATION OF INTEREST
The authors report no conflicts of interest. The authors
alone are responsible for the content and writing of
this article.
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