Clinical Report

AMELOGENESIS IMPERFECTA

ANAR PATEL* , A.R. CHAUDHARY** , BHAVIN DUDHIA*** , NARESH SONI**** , ABHISHEK BAROT*****

ABSTRACT
Amelogenesis Imperfecta (AI) is a diverse collection of inherited diseases that exhibit quantitative or qualitative tooth
enamel defects in the absence of systemic manifestations. The AI trait can be transmitted by either autosomal
dominant, autosomal recessive or X-linked modes of inheritance. Mutations in the amelogenin, enamelin, and
kallikrein-4 genes have been demonstrated to result in different types of AI and a number of other genes critical to
enamel formation have also been identified and proposed as candidates for AI. Variants of AI generally are classified as
hypoplastic, hypocalcified, or hypomaturation types based on the primary enamel defect and teeth affected may be
discoloured, sensitive or prone to disintegration.This defect is entirely ectodermal, since mesodermal components of
the teeth are normal.
It is necessary to diagnose the case and provide durable functional and esthetic management of these patients, as the
unaesthetic appearance has a definite negative psychological impact.This article presents a case report of 26 years
female patient with Amelogenesis imperfecta.
Key words: Amelogenesis Imperfecta, Enamel, Genetic

INTRODUCTION & REVIEW

Amelogenesis imperfecta (AI) encompasses a
heterogeneous group of developmental disorders
that demonstrates alterations in the enamel. It is
characterized by clinical and genetic heterogeneity
in the absence of systemic abnormalities or
diseases.1 - 4 AI is also known by varied names such
as hereditary enamel dysplasia, hereditary brown
enamel, and hereditary brown opalescent teeth. 1, 5
Amelogenesis Imperfecta (AI) encompasses a
complicated group of conditions that demonstrate
developmental alterations in the structure of the
1, 5 - 7
enamel in the absence of a systemic disorder.
The prevalence of this condition has been expected
to range from 1 in 718 to 1 in 14,000, depending
upon the population studied. 1, 4 - 6, 8 - 11 Hypoplastic AI
represents 60 73% of all cases, hypomaturation AI
represents 20 40%, and hypocalcification AI
represents 7%. 1, 5, 11 No racial predilections of the AI
8
have been reported. Both primary and permanent
2, 5, 6, 8, 12, 13
dentitions are usually affected.

AI is caused by mutations in genes that control

amelogenesis and follows inheritance patterns of
autosomal-dominant, autosomal recessive or X3 - 5, 8, 12, 14
linked modes of transmission.
There are also
patients for whom a family history cannot be
identified but where a mutation is present. 2, 5, 6, 8, 12, 13
The inheritance pattern of X-linked disorders
dictates that male to male transmission cannot
occur. Conversely, all female offsprings of the
affected male must be affected. Affected females
have a 50% of passing on the trait to the offspring of
1, 9
either sex.
Mutations in the amelogenin gene
(AMELX) cause X-linked amelogenesis
imperfecta, while mutations in the enamelin gene
(ENAM) cause autosomal-inherited forms of
amelogenesis imperfecta. Recent reports involve
kallikrein-4 (KLK4), MMP-20 and DLX3 genes in
1 - 3, 9, 13, 14
the etiologies of some cases.
Witkop and Sauk listed the varieties of AI, divided
according to whether the abnormality lay in a
reduced amount of enamel (hypoplasia), deficient

*Sr. Lecturer (Oral Medicine & Radiology Department ) **Professor & Head (Oral Medicine & Radiology Department )
***Reader (Oral Medicine & Radiology Department ) ****Post-graduate Student (part II) (Oral Medicine & Radiology Department )
*****Post-graduate Student (part I) (Oral Medicine & Radiology Department )
AHMEDABAD DENTAL COLLEGE & HOSPITAL, BHADAJ-RANCHHODPURA ROAD, TA:- KALOL DIST:-GANDHINAGAR.
ADDRESS FOR AUTHOR CORROSPONDENCE : DR. Anar Patel, PHONE:- 97273 95438
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ANAR PATEL et. al. : Amelogenesis Imperfecta

calcification (hypocalcification), or imperfect

maturation of the enamel (hypomaturation), and
1, 5, 6, 11, 13, 14,
also recognized the combine defects

Table 1 : Classification of
Almelogenesis Imperfecta (Witkop and Sauk)
Type I hypoplastic
IA
Hypoplastic, pitted autosomal
dominant
IB
Hypoplastic, local autosomal dominant
IC
Hypoplastic, local autosomal recessive
ID
Hypoplastic, smooth autosomal
dominant
IE
Hypoplastic, smooth X-linked
dominant
IF
Hypoplastic, rough autosomal
dominant
IG
Enamel agenesis, autosomal recessive
Type II hypomaturation
IIA Hypomaturation, pigmented autosomal
recessive
IIB Hypomaturation
IIC Snow-capped teeth, X-linked
IID Autosomal dominant?
Type III hypocalcification
IIIA Autosomal dominant
IIIB Autosomal recessive
Type IV hypomaturation hypoplastic with
taurodontism
IVA Hypomaturation hypoplastic with
taurodontism, autosomal dominant
IVB Hypoplastic hypomaturation with
taurodontism, autosomal dominant
Clinically, AI appears as an alteration of
enamel formation resulting in hypoplasia,
5, 14
hypocalcification, and hypomaturation. Enamel
hypoplasia results in a decreased quantitative
enamel formation. The enamel in hypocalcification
appears normal but poorly mineralized while
hypomaturation results in an abnormal
mineralization in the final stages of tooth formation.
The most common form, the hypoplastic type, is
5, 10
deficient in normal enamel. The crowns of the
teeth appear blanched, snow-capped, yellow-

5, 7, 8, 14

brown, pitted or grooved.

Radiographic
examination usually show a full complement of
teeth, but the crowns of the teeth either have very
thin enamel or lack enamel completely.5, 7, 14
Other dental features associated with AI include
quantitative and qualitative enamel deficiency,
pulpal calcifications, taurodontism and root
malformations, impaction of permanent teeth,
progressive root and crown resorption, congenitally
missing teeth and anterior and posterior open bite
occlusion.3, 16
Diagnosis involves exclusion of extrinsic
environmental or other factors, establishment of a
likely inheritance pattern, recognition of phenotype
and correlation with the dates of tooth formation
to exclude a chronological developmental
1, 3, 4
disturbance. Also dental radiography in form of
OPG & full mouth intraoral radiographs plays a
vital role in diagnosing the difference in density of
enamel in AI patients and normal patients along
with dentin thickness, pulp canal and root length.3
Treatment planning for patients with amelogenesis
imperfecta is related to many factors: the age and
socioeconomic status of the patient, the type and
severity of the disorder, and the intraoral situation.
An interdisciplinary approach is necessary to
evaluate, diagnose and resolve esthetic problems
using a combination of prosthodontic, orthodontic
6, 12
and restorative treatment.
This paper describes various dental manifestations,
the functional and esthetic rehabilitation of AI
patient. It also emphasizes on the fact that radiology
plays a vital role in diagnosing such conditions.

CASE REPORT
A 26 year old female patient reported to the
department of Oral medicine and radiology,
Ahmedabad Dental College & Hospital with a chief
complain of discoloured teeth since childhood and
associated complain of difficulty in chewing hard
food.

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ANAR PATEL et. al. : Amelogenesis Imperfecta

She had not sought any treatment previously, since

the condition was not resulting in any other
systemic manifestations. Since she had inherited
the condition from her mother, she accepted it as
part of her appearance. But now because of
psychological impact of her appearance and
difficulty in chewing hard food, she came to our
dental OPD for treatment. Patient resided in a nonfluoridated area since her birth. Her natal, postnatal
and medical histories were not significant. Her
mother & maternal aunt also suffered from the same
condition. The pedigree chart could be constructed
as in.

Fig.-2: Intraoral photograph showing generalized brownish stains,

hypoplastic enamel with severe pitting and anterior open bite

Fig.-1: Pedigree chart of the Case

Past dental history revealed that her deciduous teeth

were also similarly discoloured. No history of any
eruption disturbances or previous extraction. From
a functional point of view, she had been avoiding
hard food substances; at the same time, remaining
caries free, except for root canal treatment in 15, 16,
46 & 47. The patients hair, skin and nails were
normal. Mandible was markedly prognathic.
On intraoral examination, it was found that she had
a normal complement of teeth except that 12 & 22
were missing (13 was also missing clinically but
retained root piece of 13 was confirmed
radiographically). The thickness of enamel was
reduced on all teeth and was completely chipped off
from some teeth exposing the dentin. The surfaces
of the teeth were rough. The teeth, in general,
exhibited orange brown discoloration, with diffuse
pitting present on all surfaces of the teeth. She had
high arched U-shaped palate, anterior open bite
with Class III malocclusion. Periodontal condition
was sound with satisfactory oral hygiene.

Fig.-3: Intraoral photograph showing high arched U-shaped palate

with rough malformed enamel and temporary restoration in 25, 26

The diagnostic cast of patient were made which

showed rough surface and malformed shape of all
teeth.

Fig.-4: Photograph of diagnostic casts showing rough

surface and altered shape of all teeth

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Radiographic investigations included an

Orthopantomogram (OPG) and full mouth intraoral
periapical (IOPA) radiographs. OPG showed
missing 12 and 22. Crowns of all teeth showed
reduced enamel thickness with normal dentin. Root
morphology of all teeth was completely normal.

Fig.-5: Photograph of OPG showing reduced thickness of

enamel on all teeth, missing 12 & 22, root canal treated 15, 16, 46, and 47
with prognathic mandible.

Examination of the IOPA radiographs revealed a

normal pulp chamber and root canal spaces with no
signs of obliteration, missing 12 & 22 with retained
root piece of 13. The enamel was almost half its
usual thickness, but was more radiodense than the
dentin.

Fig.-6: Photograph of IOPA of upper anterior region showing

11, 14, 21& 23 with thin enamel & normal dentin, pulp canal
and root length and retained root piece of 13

A provisional diagnosis of hypomature AI was

proposed along with a differential diagnosis of
environmental enamel hypoplasia, Dentinogenesis
imperfecta and dentin dysplasia. The diagnosis of
hypomature, pigmented, autosomal recessive type
of amelogenesis imperfecta with partial anodontia
was confirmed on the basis of typical family history,

pedigree chart, clinical and radiographic features.

Esthetics and functional limitations were the reason
that brought patient for treatment. The treatment
proposed for her included oral prophylaxis, surgical
removal of root piece of 13, restoration of
malformed teeth, crown placement following root
canal treatment, esthetic rehabilitation with fixed
full cast crown of porcelain fused to metal. Along
with that, oral hygiene instructions were given to
the patient. Regular brushing of the teeth using the
modified Bass technique was taught to the patient to
be practiced twice a day using a soft toothbrush and
fluoridated toothpaste followed by rinsing with 2%
w/v of Chlorhexidine gluconate for 15 days.

DISCUSSION
Amelogenesis imperfecta is a developmental, often
inherited disorder, affecting dental enamel. It
usually occurs in the absence of systemic features
1, 5
and comprises of diverse phenotypic entities.
Compared with Dentinogenesis imperfecta the
patient does not usually complaint of sensitivity
4
since the dentin is intact. This is in accordance with
our case where patient was asymptomatic except for
unpleasant appearance and functional difficulty.
The predominant clinical manifestations of affected
individuals are enamel hypoplasia (enamel is
seemingly correctly mineralized, but thin),
hypomineralization (subdivided into
hypomaturation and hypocalcification), or a
combined phenotype, which is seen in most cases.
The trait of AI can be transmitted by an autosomaldominant, autosomal-recessive, or X-linked mode
of inheritance.1 - 3, 5, 9 - 12
Clinical presentation of the AI varies according to
its type. In the hypomaturation type, the affected
teeth exhibit mottled, opaque white-brown yellow
discoloured enamel, which is softer than normal. In
radiographs, the thickness of enamel is normal, but
the density is the same as that of the dentin. The
hypocalcified type shows pigmented, softened, and
easily detachable enamel. Radiographically,

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enamel thickness is normal, but its density is even

less than that of the dentin. In hypoplastic type, the
enamel is well-mineralized but its amount is
reduced. Radiographs exhibit a thin peripheral
outline of radiodense enamel, and low or absent
6, 9
cusps. Clinical and radiographic appearance of
the teeth of our case was harmonious with rough
pattern hypomature type of AI.
Clinically, skeletal anterior open bite is seen in
approximately 50% of patients with AI of either Xlinked or autosomal inheritance type. 3, 4, 6 This is in
accordance with present case. Non enamel dental
anomalies like taurodontism, elongation of pulp
chamber due to apical displacement of root
furcation and pulp calcifications occur with
increased frequency in these patients.3, 6 Along with
this, congenitally missing teeth (partial anodontia),
high arched palate is also seen, 3, 16 which was present
in the our case.
Diagnosis is based on the family history, pedigree
plotting, meticulous clinical and radiological
3, 4
observation. Pedigree chart was constructed for
present case which showed a vertical as well as
horizontal distribution of the AI. Patients mother
and her maternal aunt were affected by similar
condition. But her brother and her fathers family
side was not affected. This indicated autosomal
recessive type of amelogenesis imperfecta.
Dental radiographs of AI teeth provide important
information to the clinician with respect to the
degree of enamel mineralization to design an
appropriate treatment plan. Evaluation of enamel
density changes in AI teeth are generally made by

contrasting the enamel with the dentin; enamel that

has a radiopacity similar to or less than that of dentin
3
is considered mineral deficient. In present case also
enamel density was comparable to dentin.
Amelogenesis imperfecta presents with problems
of socialization, function and discomfort which
may be managed by early vigorous intervention,
both preventively and restoratively. In adult, the
permanent dentition may be protected by use of full
cast crowns on posterior teeth and veneers on
anterior teeth.3, 8, 16 Root canal treatment and esthetic
crown replacement for decayed teeth should be
done to achieve the Jacksons triad of esthetic
harmony, structural balance and functional
efficiency. A multidisciplinary approach consisting
of an orthodontist, prosthodontist and endodontist
should be planned.1, 3, 7 In our case also similar
approach was considered mainly concentrating on
esthetics and functional durability.

CONCLUSION
Amelogenesis imperfecta is a heterogeneous
developmental disorder presents with severe dental
anomalies. The dentist has to diagnose the condition
as early as possible to balance the decision for early
intervention and long-term survival of the
restorations.
Dental practitioners should also consider the social
implications for these patients and intervene to
relieve their suffering. Thus, this article is an
attempt to improve the clinicians knowledge about
the clinical & radiographic diagnosis as well as
intervention required for such a condition.

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