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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
*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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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
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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The Journal of Ahmedabad Dental College and Hospital; 2(1), March 2011 - August 2011
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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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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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REFERENCES
1. Mayur Chaudhary, Shweta Dixit, Asha Singh, Sanket Kunte.
Amelogenesis Imperfecta : Report of a case and review of literature.
JOMFP 2009;13(2):70 - 77.
15. Ahmet Keles, Binnur Pamukcu, Ferah Isik, Deniz Gemalmaz, M Zeki
Guzel. Improving quality of life with a team approach - A case report. Int J
Adult Orthod Orthognath Surg 2001;16(4):293-9.
16. Kagan Gokce, Ceyhun Canpolat, Emre Ozel. Restoring function and
esthetics in a patient with amelogenesis imperfecta : A case report. The
Journal of Contemporary Dental Practice 2007;8(4):1-6.
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