case report on amelogenesis imperfecta

1. GOODMORNIN
G
Dr Sanjana Ravindra
Post graduate Student
Oral Medicine and
Radiology

2. Amelogenesis Imperfecta, Hypoplastic Type
Associated with Some Dental Abnormalities:
A Case Report
Canger EM, Celenk P, Yenísey M, Odyakmaz SZ. Braz Dent J (2010) 21(2): 170-174.
JOURNAL CLUB: 3

3. Introduction
DEVELOPMENTAL
DISTURBANCES
an abnormality where the
pathology starts in the
embryonic stage of human
life , before the formation
of the dentition
Orban’s Oral Histology and Embryology, 12th editio

4. Introduction
DEVELOPMENTAL TOOTH
ANOMALIES
SIZE
• Microdontia
• Macrodontia
NUMBER
• Anodontia
• Supernumerary
teeth
• Pre-deciduous
dentition
STRUCTURE
• AMELOGENESIS
IMPERFECTA
• Dentinogenesis
imperfecta
• Dentin dysplasia
• Regional
odontodysplasia
• Dentin
hypocalcification
SHAPE
• Gemination
• Twinning
• Fusion
• Concrescence
• Talon cusp
• Dilaceration
• Dens in dente
• Dens evaginatus
• Enamel pearl
• Globodontia
• Mulberry molar
• Moon’s molar
• Hutchinson incisor
• Carabelli cusp
• Shovel shaped
incisor

5. encompasses a
complicated
group of conditions
that demonstrate
developmental
alterations in the
structure of the
enamel in the
absence
of a systemic
disorder.
AMELOGENESIS
IMPERFECTA
AMELOGENES
IS ?IMPERFECT
A
 Hereditary
enamel
dysplasia
 Hereditary
brown enamel
 Hereditary
brown
opalescent
teeth
Shafer’s textbook of Oral Pathology. 6th ed. Elsevier;
2009
www.merriam-webster.comIntroduction

6. Case report
Canger EM, Celenk P, Yenísey M, Odyakmaz SZ. Amelogenesis Imperfecta, Hypoplastic
Type, Associated with Some Dental Abnormalities: A Case Report: Braz Dent J (2010)
21(2): 170-174.

7. Case reportBIODATA
A 26-year-old
female
CHIEFCOMPLAINT
discolored teeth
MEDICALHISTORY
noncontributory.
FAMILY
HISTORY
None had
similar
problem

8. GINGIVA
Hyperemic and edematous gingiva.
No gingival enlargement
ORAL HYGIENE
Poor
Clinical crown length
Adequate
Case report

9. 17 16 55 14 13 52 11 21 22 24 25 26
46 85 44 83 42 41 31 32 73 44 75 36
Clinically short
Yellow-brown
coloured
Loss of contact
• CROWNS
Decreased –
vertical dimension
Case report

10. Panoramic
view
Intraoral
periapical
radiographs

11. Periodontal therapy
Oral hygiene instructions, scaling, and root
planning.
Prosthodontic rehabilitation
Full-mouth metal reinforced porcelain
fixed bridge restoration
Advised and motivated for maintenance of
proper oral hygiene & Repeated follow ups
2 WEEKS -
NORMAL
GINGIVA
VERTICAL
DIMENSION
NORMAL
ESTHETIC OR
FUNCTIONAL
PROBLEMS
Case report

13. DISCUSSION

14. Introduction
 Tooth enamel consists mainly of inorganic material (96%) and oraganic
substance and water(4%)
 Physical properties and physiological function of enamel – directly
related to composition, orientation, disposition and morphology of
mineral components within tissue
 During organogenesis, enamel transitions from soft to pliable tissue to
its final form- is devoid of protein
 Final composition is reflection of unique molecular and cellular
activities that take place during its genesis
 Deviation from this pattern lead – AMELOGENESIS IMPERFECTA

15. SYNONYMS
Hereditary enamel dysplasia
 Hereditary brown enamel
Hereditary brown opalescent teeth

16.  “AI encompasses a complicated group of conditions that demonstrate
developmental alterations in structure of the enamel in the absence of
a systemic disorder”
 “AI represents a group of conditions, genomic in origin, which affect the
structure and clinical appearance of the enamel of all or nearly all the
teeth in a more or less equal manner, and which may be associated
with morphologic or biochemical changes elsewhere in the body”
Orphanet Journal of Rare Diseases 2007,
2:17
Definition

17. Historical background
Spokes in 1890,
described "brown
teeth" with a familial
history.
In 1907 Turner described
some cases of
hereditary hypoplasia of
teeth in five generations
of same family
Weinmann & associates in 1945 –
introduced term “AMELOGENESIS
IMPERFECTA” – it is an ectodermal
disturbance, mesodermal components
are normal

18. ETIOLOGY
 Dental enamel is a highly mineralised tissue
 Derived through the synthesis and secretion of proteins
 Formation of this highly organised and unusual structure is controlled in
ameloblasts through interaction of a number of organic matrix molecules

19. Development of normal enamel occurs in three stages
1. Formative stage – deposition of organic matrix – Hypoplastic AI
2. Calcification stage – matrix is mineralized –Hypocalcified AI
3. Maturation stage – crystallites enlarge and mature –
Hypomaturative AI
ETIOLOGY

20. Genes and phenotypes
Proteins/ enzymes
forming enamel
Type of AI Inheritance
1 Amelogenin Diffuse smooth
hypoplastic &
hypomaturation
X linked
2 Ameloblastin Hypocalcified AD
3 Enamelin Hypoplastic AD, AR
4 Tuftelin hypoplastic AD,AR
5 Kallikrein Hypomaturation AR
6 Matrix metalloproteinase Pigmented
hypomaturation
AR

21. Modes of Mendelian Inheritance Associated with AI
https://www.google.co.in/search?q+phenotype

22. CLASSIFICATION
Sekar B, Dominic Augustine, Murali S.
Amelogenesis Imperfecta - A Case Report with
Genetic Transmission. IJDA, 2(4), October-
December, 2010 395.

23. Hypoplastic
Hypocalcified
By Weinnman et al (1945)

24. BASED ON CLINICAL, MICRORADIOGRAPHIC
AND HISTOPATHOLOGICAL FINDINGS BY
Darling (1956)
Hypoplastic
Group 1 – gen pitting
Group 2- vertical
grooves
Group 3- gen
hypoplasia
Hypocalcified
Type 4A- chalky,
yellow, brown enamel
Type 4B- marked
enamel discolouration
7 softness with post
eruptive loss of
enamel
Type 5- gen/ localized
discolouration and
chipping of enamel

25. By Witkop
(1957)
 Hypoplastic
 Hypocalcification
 Hypomaturation Pigmented
hypomaturation
 Local hypoplasia

26. By Schulze
(1970)
Type 1 hypoplastic Specific features , inheritance
1A Hypoplastic, pitted AD
1B Hypoplastic, local AD
1C Hypoplastic, local AR
1D Hypoplastic, smooth AD
1E Hypoplastic, smooth x-linked D
1F Hypoplastic, rough AD
Typw 2 hypomaturation
2A hypomaturation
2B hypomaturation
2C Snow capped teeth, x linked
2D AD
Type 3 hypocalcification
3A AD
3B AR
Type 4 Hypomaturation- hypoplastic with taurodontismType 4A Hypomaturation- hypoplastic with
taurodontism AD
Type 4B Hypoplastic- hypomaturation with taurodontism AD
Neville BW, Douglass DD, Allen CM, Bouquot JE. Abnormalities of teeth. In: Oral and Maxillofacial Pathology. 2nd ed.. Pennsylvania:Elsevier;200

27. Prevalence range from 1 in 718 to 1 in 14,000, depending on the
population studied.
 Hypoplastic AI represents 60 – 73% of all cases,
 Hypomaturation AI represents 20 – 40%, and
 Hypocalcification AI represents 7%
Prevalence

28. Clinical features

29. Hypoplastic type
Gen.
pitted
Localized
pitted
Diffuse
smooth
Diffuse
rough
AD
Localized
pitted
Enamel
Agenesis
AR
Males
Females
X-
linked

30. Hypoplastic type – autosomal dominant
GENERALIZED
PITTED
• Thin enamel
• Open contact
• Pinpoint to pinhead
pits
• Newly erupted teeth:
hard with normal
yellow-white colour
• Staining of teeth-
exposure to oral
environment- black
appearance
LOCALIZED
PITTED
• Linear
depression/
large area of
hypoplasia
• Prominent on
buccal surface
DIFFUSE
SMOOTH
• Thin, glossy with
smooth surface
• ¼ to 1/8 of
normal thickness
• Yellow color –
opaque to
translucent brown
• Delayed eruption
with alveolar
resorption
DIFFUSE
ROUGH
Hard with rough
granular surface
White to yellowish
white
Thicker enamel at
cervical areas
https://www.google.co.in/search?q=amelogenesis+hypoplas

31. Localized
pitted
Severe form of AD
Enamel
agenesis
Yellow colour like normal
dentition
Surface is rough & granular-
ground glass
Complete lack of enamel
formation
Multiple missing teeth
https://www.google.co.in/search?q=amelogenesis+hypoplastic
Hypoplastic type – autosomal recessive

32. Males
– Thin, hard, glossy
– Like crown preparations, open bite
– Opaque white to brown
Females
– Alternating vertical bands of normal and
abnormal enamel
https://www.google.co.in/search?q=amelogenesis+hypoplastic
Hypoplastic type – x-linked dominant

33. Hypoplastic amelogenesis
imperfecta, gen pitted pattern .
Note the numerous pinpoint pits
scattered across the surface of
the teeth. The enamel between
the pits is of
normal thickness. hardness. and
coloration.
Hypoplastic amelogenesis
imperfecta, autosomal dominant
smooth pattern.
Small. yellowish teeth exhibiting
hard, glossy enamel with open
contact Points and anterior
open bite.
Neville BW, Douglass DD, Allen CM, Bouquot JE. Abnormalities of teeth. In: Oral and Maxillofacial Pathology. 2nd ed.. Pennsylvania:Elsevier;2004. 89

34. Autosomal dominant
Autosomal recessive
Hypocalcific type

35. Thickness of enamel
Normal- hypoplasia( middle 3rd of labial surface)
Consistency of enamel
Soft – lost after eruption- scrapped with instrument
Colour of enamel
Newly erupted teeth- dull lustreless opaque, white, honey
coloured or yellowish orange or brown
Significance :
Exposed dentin-
hypersensitive
anterior opn
bite
Rapid calculus
formation
Hypocalcified type – aD & AR
Neville BW, Douglass DD, Allen CM, Bouquot JE. Abnormalities of teeth. In: Oral and Maxillofacial Pathology. 2nd ed.. Pennsylvania:Elsevier;2004. 89

36. Dentition exhibiting diffuse
yellow-brown discoloration .
Note numerous teeth with loss
of coronal enamel except for
the cervical portion.
Hypocalcified type – aD & AR
Extensive loss of coronal
enamel and the similar
density of enamel
and dentin.
Neville BW, Douglass DD, Allen CM, Bouquot JE. Abnormalities of teeth. In: Oral and Maxillofacial Pathology. 2nd ed.. Pennsylvania:Elsevier;2004. 89

37. Autosomal dominant X linked recessiveAutosomal recessive
Hypomaturative type

38. Commonly in males
Both in primary and permanent dentition
Primary teeth: ground glass opaque white
appearance
Permanent teeth :mottled yellow white, may be
darkened with absorption of stains
Tight contact point
Enamel approaches normal thickness.
Point of explorer can be forced into enamel
Hypomaturative type – autosomal dominant

39. Both in primary and
permanent dentition
Enamel has milky to
shiny, agar brown
deeply stained on
contact with
exogenous agents
Normal thickness.
Chips away around
restoration
Forms large amount
of calculus which
may contain pigment
forming agents
Teeth may resorb
within alveolus
https://www.google.co.in/search?q=amelogenesis+hypomaturativ
Hypomaturative type – autosomal recessive

40.  Snow capped
 Zone of white opaque enamel on incisal
and
occlusal surface (1/4 to 1/3 of the surface)
 Looks like fluorosis
 Anteriors, premolars/molars
 Both dentitions
https://www.google.co.in/search?q=snow+capped
Hypomaturative type – x linked recessive

41.  Predominant defect – enamel hypomaturation
 Enamel appears – mottled yellow-white to yellow brown
 Pits are seen frequently on buccal surface of teeth
Radiographically – enamel appears similar to dentin
 Large pulp chambers may be seen in single rooted teeth in
addition to varying degrees of taurodontism
Hypomaturation- hypoplastic with taurodontism – Autosomal
dominant
https://www.google.co.in/search?q=amelogenesis+hypomatu+tauro

42. Predominant defect – enamel hypoplasia in which enamel is thin
but also hypomature
Radiographically-
Similar to hypomaturation-hypoplastic variant, except decrease
in thickness of enamel
https://www.google.co.in/search?q=amelogenesis+hypomatu+tauro
Hypoplastic - hypomaturation with taurodontism – Autosomal dominant

43. Radiographic features
Squarish type of crown
being devoid of the normal
mesial and distal contours
Normal enamel cap is
missing and in its place a
thin and opaque layer of
enamel
Low or absent cusps, with
serrations of varying
sharpness
Lack of contrast between
enamel and dentin
Obliteration of pulp chamber
Loss of contour Enamel Pulp chamber
https://www.google.co.in/search?q=amelogenesis+tauro

44. TYPE CLINICAL
APPEARANCE
ENAMEL
THICKNESS
HYPOPLASTIC
(TYPE I)
Crowns size : small to
normal, lack proxmal
contacts, color varies
from normal to opaque
white – yellow brown
Varies from thin and
smooth to normal
thickness with
grooves, furrows
and/or pits
HYPOMATURATIO
N
(TYPE II)
Varies from creamy
opaque to marked
yellow/brown, surface
of teeth soft and rough,
dental sensitivity and
open bite common
Normal thickness
with enamel that
often chips and
abrades easily
around restoration
HYPOCALCIFIE
D
(TYPE III)
Opaque white to
yellow-brown, soft
rough enamel surface,
dental sensitivity and
open bite common,
heavy calculus
formation common
Normal thickness
with enamel that
often chips and
abrades easily
HYPOMATURATIO
N/ HYPOPLASIA/
TAURODONTISM
(TYPE IV)
White/Yellow-
Brown mottled,
teeth can appear
small and lack
proximal contact
Reduced,
hypomineralized
areas and pits
RADIOGRAPHIC
APPEARANCE
INHERITANCE
Enamel has normal
to slightly reduced
contrast/ thin
Autosomal
dominant,
recessive, or X-
linked
Enamel has contrast
similar to or > than
dentin, unerupted
crowns have normal
morphology
Autosomal
dominant,
recessive, or X-
linked
Enamel has contrast
similar to or <
dentin, unerupted
crowns have normal
morphology
Autosomal
dominant, recessive
Enamel contrast
normal to slightly >
dentin, large pulp
chambers
Autosomal dominant
Neville BW, Douglass DD, Allen CM, Bouquot JE. Abnormalities of teeth. In: Oral and Maxillofacial Pathology. 2nd ed.. Pennsylvania:Elsevier;2004. 89

45. Histopathological examination
 Very thin enamel, voids within enamel & composed of laminations of
irregularly arranged enamel prisms
 Enamel-dentin junction, show some exaggerated scalloping.
 Areas of homogeneous aprismatic enamel or fused indistinct prisms, with
“a reduction in distance between enamel rod incremental lines”
https://www.google.co.in/search?q=amelogenesis+slides

46. Syndromes associated
 Amelogenesi
s imperfect
with
taurodontism
 Trichodentoo
sseous
syndrome
Tricho-dento-osseous syndrome. Dentition
exhibiting diffuse enamel hypop lasia and
hypomaturat ion. At birth, the patient
exhibit kinky "steel wool" hair texture
with time, the hair gets straightened.
Taurodontism of the first molar and the
enamel. which is thin and similar in density to
the dentin.
Neville BW, Douglass DD, Allen CM, Bouquot JE. Abnormalities of teeth. In: Oral and Maxillofacial Pathology. 2nd ed.. Pennsylvania:Elsevier;2004. 89

47. Cone rod dystrophy
Kohlschutter-Tonz syndrome
Usher syndrome
Other syndromes

48. Non enamel anomalies seen
in Amelogenesis Imperfecta
 Delayed tooth eruption
 Congenitally missing
teeth
 Anterior open bite
 Taurodontism
 Pulpal calcification
 Root and crown
resorption
 Hypercementosis
 Root malformations
 Malocclusion
 Gingivitis

49. Diagnosis
Clinical diagnosis
Cheesy consistency of
enamel with loss of
enamel
Radiographic diagnosis
Missing enamel cap with
low or absent cusp

50. Differential diagnosis
Dental fluorosis Dentinogenesis imperfecta

51. Management
Cosmetic
improvement Desensitizing
agent
Prosthetic
rehabilitation
https://www.google.co.in/search?q=amelogenesis+treat+crowns

52. Reason for choosing this article
Developmental disorder presents with severe dental anomalies. Its
important to diagnose the condition as early as possible to balance the
decision for early intervention and long-term survival of the
restorations. Also consider the social implications for these patients and
intervene to relieve their suffering. Thus, this article is an
attempt to improve the clinician’s knowledge about the clinical &
radiographic diagnosis as well as intervention required for such a
condition.

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