Farhiya

::
Abdiwelli
Group 460A
CONTENTS
 AMELOGENESIS IMPERFECTA
1. INTRODUCTION
2. CLASSIFICATION
3. MOLECULAR GENETICS
4. CLINICAL FINDINGS
5. RADIOGRAPHIC FEATURES
6. HISTOLOGIC FEATURES
7. TREATMENT CONCEPTS
 ENVIRONMENTAL ENAMEL HYPOPLASIA
8. INTRODUCTION
9. INFLUENTIAL FACTORS
 REFERENCES
 Enamel hypoplasia may be defined as
an incomplete or defective formation of
the organic enamel matrix of teeth
 Two basic types of enamel hypoplasia
exist:
(1)a hereditary type, discussed under
amelogenesis imperfecta, and
(2)a type caused by environmental
factors.
 In the hereditary type, both the
deciduous and permanent dentitions
usually are involved and generally only
the enamel is affected.
 In contrast, when the defect is
caused by environmental factors either
dentition may be involved and
sometimes only a single tooth; both
enamel and dentin are usually affected,
at least to some degree.
Amelogenesis Imperfecta
(Hereditary enamel dysplasia, hereditary
brown enamel,hereditary brown opalescent
teeth)

 A complex inheritance pattern gives rise to

amelogenesis imperfecta (AI), a structural
defect of the tooth enamel.
 It may be differentiated into three
main groups: {Witkop & Sauk 1976}
1.Hhyyppooppa
l lsatisc t(iHcP()H, P),
3.Hypomature
.h (HM)
yyppoocacla cilfc(HM),
ei idfieH
( dC(,)HaCnd),
and

2H hypomature
depending on the clinical presentation of the
defects and the likely stage of enamel formation
that is primarily affected
WITKOP {1989} CLASSIFICATION OF AMELOGENESIS
IMPERFECTA
 HYPOPLASTIC AI HYPOCALCIFIED AI HYPOMATURATIVE AI

•Enamel of reduced
thickness due to a
•Defect in enamel •Teeth become
defect in the formation
of normal matrix calcification stained and rapidly
• Pitting and grooves •Enamel of normal wear down
•Hard and translucent thickness •Radiographically,
enamel • Weak in structure enamel is less
•Radiographically, the •Appears opaque or radio-opaque than
enamel contrasts chalky dentine.
normally from dentine.

 (*K Gadhia et.al.Amelogenesis imperfecta: an

introduction.British Dental Journal 2012; 212: 377-
 The prevalence is estimated to 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%.
 Disorders of the enamel epithelium also
can cause alterations in the eruption
mechanism, resulting in the anterior open
bite.
Molecular Genetics
Mutations in the :
AMELX,ENAM,
MMP20,
KLK-4,
FAM83H
,
WDR72,
C4orf26,
SLC24A4,
LAMB3 and
ITGB6

Genes found to cause Amelogenesis Imperfecta

(non-syndromic form)

 (*Seow WK. Developmental defects of enamel and dentine:

challenges for basic science research and clinical management.
Aust Dent J. 2014;59(Suppl1):143–54)
 AMELX and ENAM extracellular
matrix proteins of the developing tooth
enamel
 KLK-4 and MMP20 proteases that
help degrade organic matter from the
enamel matrix during the maturation stage
of amelogenesis.
 SLC24A4 calcium transporter
that mediates calcium transport to
developing enamel during tooth
development.
 Less is known about the function of other
genes implicated in amelogenesis imperfecta.
 Mutations in the ENAM gene are the most
frequent known cause and are most
commonly inherited in an autosomal
dominant pattern.
 The form of disorder which result from
mutations in the ENAM, MMP20, KLK4,
FAM20A, C4orf26 or SLC24A4 genes are
inherited as autosomal recessive
pattern.
 About 5% of amelogenesis imperfecta
cases are caused by mutations in the
AMELX gene and are inherited in an X-
linked pattern.
 Analysis of X-linked AI has shown
the defective gene for this specific AI
type to be closely linked to the locus
DXS85 at Xp22.
 Interestingly, this also has been
identified as the general location of the
human gene for amelogenin, the
principal protein in developing enamel.
 Amelogenesis imperfecta is sometimes associated with
syndromes like, Amelogenesis Imperfecta with
taurodontism, tricho-dentoosseous syndrome, AI with
nephrocalcinosis and cone-rod dystrophy with AI.

 The commonest differential diagnosis which should be kept in

mind during the clinical assessment is dental fluorosis.

 The variability of this condition, from mild white ‘flecking’ of

the enamel to profoundly dense white coloration with
random, disfiguring areas of staining and hypoplasia,
requires careful questioning to distinguish from AI.

 * (Pavlicˇ A, Battelino T, Podkrajsˇek KT, Ovsenik M. Craniofacial

characteristics and genotypes of amelogenesis imperfecta patients.
Eur J Orthod. 2011;33:325–31)
CLINICAL FINDINGS

 Parekh et al.* investigated the impact of the alterations of AI on

the quality of life of patients(61 patients, response rate 61 %)
suffering from AI.

 For about 90 % of all patients, the main complaint was the

discolouration of their teeth and about 77 % asked for an
improvement of their smile.

 For nearly the same percentage (74 %), reduction of sensitivity

was the most important reason to seek for dental treatment,
while improvement of the tooth size was important for 60 % of
all patients*.

(*Parekh S, Almehateb M, Cunningham SJ. How do children with

amelogenesis imperfecta feel about their teeth? Int J Paediatr Dent.
2014;24:326–35)
 Regarding the intraoral examination, several characteristic findings
have been reported:

A.Often wear of enamel with exposed dentin areas are evident

especially at the occlusal aspects of posterior teeth*.

B.Due to loss or hypoplastic enamel, the lack of proximal contacts is

typical.

C.A further consequence of the loss/lack of enamel is the loss of the

vertical dimension**.

D. Functional problems like decreased masticatory efficiency.

 (*Sholapurkar et.al. Clinical diagnosis and oral rehabilitation of a

patient with amelogenesis imperfecta: a case report. J Contemp
Dent Pract. 2008;9:92–8.)
 (**Shetty YB, Shetty A. Oral rehabilitation of a young adult with
amelogenesis imperfecta: a clinical report. J Indian Prosthodont
Soc. 2010;10:240–5.)
 Besides alterations of dental hard tissues,
also craniofacial alterations of patients with
AI have been reported, like anterior open
bite (AOB), posterior open bite (POB),
negative overjet and altered vertical jaw
relationship.
 Some authors described a greater number
of unerupted teeth.

(*Alachioti XS, Dimopoulou E, Vlasakidou A, Athanasiou

AE.Amelogenesis imperfecta and anterior open bite: etiological,
classification, clinical and management interrelationships. J Orthod
Sci. 2014;3:1–6).
Radiographic Features
 The overall shape of the tooth may or may
not be normal, depending upon the amount
of enamel present on the tooth and the
amount of occlusal and incisal wear.
 The enamel may appear totally absent on
the radiograph, or when present, may appear
as a very thin layer, chiefly over the tips of
the cusps and on the interproximal surfaces
 In other cases the calcification of the
enamel may be so affected that it appears to
have the same approximate radiodensity as
the dentin,making differentiation between
the two difficult
 In hypocalcification enamel
RD=or less than dentin

In hypoplastic type- R D of
enamel>dentin

In hypomaturation type-R D of
enamel=dentin
Histologic Features
 The general histologic features of the enamel
also parallel the general type of amelogenesis
imperfecta that has been diagnosed.
 There is a disturbance in the differentiation or
viability of ameloblasts in the hypoplastic type,
and this is reflected in defects in matrix
formation up to and including total absence of
matrix.
 In the hypocalcification types there are defects
of matrix structure and of mineral deposition.
 Finally, in the hypomaturation types there are
alterations in enamel rod and rod sheath
structures.
TREATMENT
 There is no treatment except for improvement
of cosmetic appearance. However, in some
cases, these teeth do not appear markedly
abnormal to the casual observer.
 Adequate treatment concepts of patients with
AI must be based on an interdisciplinary
approach*

 (*Sabandal.et.al. Amelogenesis imperfecta-review of diagnostic

findings and treatment concepts.Odontology Volume issue
2016)
 ORTHODONTIC
TREATMENT SURGERY

 Especially patients  Especially in subjects

with hypoplastic and with anterior open
hypocalcified forms of bite orthodontic
AI have a higher surgery may be
incidence for AOB necessary, often in
 Besides differences in combination with
the vertical growth extraction of some
pattern, also Class II teeth
and III malocclusions
have been reported
 RESTORATIV PROSTHETIC
E TREATMENT
TREATMENT
 In general, the longevity of  Besides full metal crowns
dental restorations in especially in the
patients with AI is posterior region,also
considerably reduced and porcelain fused- to-metal
this correlates with the crowns and bridges.
severity of AI.  Recently all-ceramic
crowns have been
 Treatment with direct shown to allow sufficient
composite restorations long- term restoration of
was mostly performed as the affected teeth.
a temporary therapy to  Depending on the age of
gain some time and to the patient, also other
perform the definitive materials like composite
restoration in an older crowns, composite
stage of life. veneers and in younger
patients even stainless
steel crowns may be
beneficial.
Factors influencing
(1) Nutritional deficiency (vitamins A, C, and D);
(2)Exanthematous diseases (e.g. measles,
chickenpox, scarlet fever);
(3)Congenital syphilis;
(4)Hypocalcemia;
(5) Birth injury,
prematurity, Rh
hemolytic disease;
(6) Local infection or
trauma;
(7) Ingestion of
chemicals (chiefly
 Hypoplasia results only if the injury occurs
during the time the teeth are developing, or
more specifically, during the formative stage of
enamel development.
 Once the enamel has calcified, no such
defect can be produced.
 Thus, knowing the chronologic
development of the deciduous and
permanent teeth,it is possible to determine
from the location of the defect on the teeth
the approximate time at which the injury
occurred.
Hypoplasia due to Nutritional
Deficiency and Exanthematous
Fevers
 Some studies have indicated that the
exanthematous diseases, including measles,
chickenpox and scarlet fever, are etiologic
factors, but other investigators have been
unable to confirm this finding.
 In general, it might be stated that any serious
nutritional deficiency or systemic disease is
potentially capable of producing enamel
hypoplasia, since the ameloblasts are one of
the most sensitive groups of cells in the
body in terms of metabolic function.
 Clinical studies indicate that most cases of
enamel hypoplasia involve those teeth that
form within the first year after birth, although
teeth that form somewhat later may be
affected.
 Thus the teeth most frequently involved are
the central and lateral incisors, cuspids, and
first molars.
 Premolars and second and third molars are
seldom affected, since their formation does not
begin until about the age of three years or
later.
 There has been considerable
controversy as to whether there is any
relation between enamel hypoplasia and
dental caries experience, and clinical
reports have given conflicting results.
 It is most reasonable to assume that the
two are not related, although hypoplastic
teeth do appear to decay at a
somewhat more rapid rate once caries
has been initiated
Enamel Hypoplasia due to
Congenital Syphilis
 The hypoplasia due to congenital syphilis is
most frequently notand that, consequently,
congenital syphilis in children under one year
of age increased 117% during the 10–year
period from 1960 to 1969.
 Investigating 271 patients with congenital
syphilis, they found that over 63% had
Hutchinson’s teeth but
 they pointed out that this may not be the true
incidence, since some of the patients had
their teeth extracted.
 In addition, approximately 65% of this
group of patients with congenital syphilis
also had the characteristic ‘mulberry
molars.’
 Also, occasional patients will appear to
have Hutchinson’s teeth without having a
history of congenital syphilis.
 The diagnosis of syphilis, particularly in the
absence of the other conditions of
Hutchinson’s triad(Interstitial Keratosis,
hutchinson incisors & Eigth nerve
deafness) must be made without hasty.
 Hutchinson’s triad

Interstitial keratitis
and strabismus.
Enamel hypoplasia of
maxillary central incisors
(Hutchinson’s teeth).

The semilunar notch on the

incisal edge of mandibular
incisors (Hutchinson’s teeth).

(*Larissa et.al.Clinical aspects of congenital syphilis with Hutchinson’s triad.BMJ

Case Reports 2011)
Enamel Hypoplasia due to
Hypocalcemia
 Tetany, induced by a decreased level of calcium
in the blood, may result from several conditions,
the most common being vitamin D deficiency
and parathyroid deficiency (parathyroprivic
tetany).
 In tetany the serum calcium level may fall as low
as 6–8 mg per 100 ml, and at this level enamel
hypoplasia is frequently produced in teeth
developing concomitantly.
 This type of enamel hypoplasia is usually of the
pitting variety and thus does not differ from
that resulting from a nutritional disturbance or
exanthematous disease.
Hypoplasia due to Birth Injuries
 The neonatal line or ring, described by
Schour in 1936 and present in
deciduous teeth and first permanent
molars, may be thought of as a type of
hypoplasia because there is a
disturbance produced in the enamel and
dentin, which is indicative of trauma or
change of environment at the time of
birth.
 Miller and Forrester have reported a clinical study
with evidence that enamel hypoplasia is far more
common in prematurely born children than in
normal term infants.

- Cases of ring-like staining of teeth in children who

had suffered from Rh hemolytic disease at birth (q.v.)
was reported with enamel hypoplasia {Rh Hump}

 Grahnen and Larsson have also shown an

increased incidence of enamel hypoplasia in
premature children, but interestingly no differences
in caries incidence between this group and a control
group of children
Enamel Hypoplasia due to
Local Infection or Trauma
 A type of hypoplasia occasionally seen is
unusual in that only a single tooth is involved,
most commonly one of the permanent
maxillary incisors or a maxillary or
mandibular premolar.
 There may be any degree of hypoplasia,
ranging from a mild, brownish discoloration
of the enamel to a severe pitting and
irregularity of the tooth crown.
 These single teeth are frequently referred to
as ‘Turner’s teeth,’ and the condition is called
‘Turner’s hypoplasia.’
 If a deciduous tooth becomes carious during
the period when the crown of the succeeding
permanent tooth is being formed, a bacterial
infection involving the periapical tissue of
this deciduous tooth may disturb the
ameloblastic layer of the permanent tooth
and result in a hypoplastic crown.
 The severity of this hypoplasia will depend
upon the severity of the infection, the degree
of tissue involvement, and the stage of
permanent tooth formation during which the
infection occurred
 A similar type of hypoplasia may follow
trauma to a deciduous tooth, particularly
when the deciduous tooth has been driven
into the alveolus and has disturbed the
permanent tooth bud.
 If this permanent tooth crown is still being
formed, the resulting injury may be
manifested as a yellowish or brownish stain
or pigmentation of the enamel, usually on the
labial surface, or as a true hypoplastic
pitting defect or deformity.
Enamel Hypoplasia due to
Fluoride: Mottled Enamel
 Mottled enamel is a type of enamel
hypoplasia that was first described under
that term in this country by GV Black
and Frederick.

 Black and McKay recognized that this

lesion exhibited a geographic distribution
and even suggested that it was a result of
some substance in the water supply,
although it was not until some years later
that fluorine was shown to be the causative
agent.
Etiology

 It is now recognized that the ingestion of

fluoride containing drinking water during the
time of tooth formation may result in
mottled enamel.
 The severity of the mottling increases with
an increasing amount of fluoride in the
water.
 Thus there is little mottling of any clinical
significance at a level below 0.9–1.0 part per
million of fluoride in the water, whereas it
becomes progressively evident above this
level.
 Indian Geographic Distribution

(*Arlappa N et.al. Fluorosis in India: an overview Int J Res Dev Health. April 2013; Vol
Pathogenesis
 This type of hypoplasia is due to a
disturbance of the ameloblasts during the
formative stage of tooth development.
 The exact nature of the injury is not
known, but since there is histologic
evidence of cell damage, it is likely that the
cell product, the enamel matrix, is
defective or deficient.
 It also has been shown that, with somewhat
higher levels of fluoride, there is interference
with the calcification process of the matrix.
 Epidemiologic studies have reported that
not all children born and reared in an area
of endemic fluorosis exhibit the same
degree of mottling even though they all
have used the same water supply.
 Furthermore, a few persons may exhibit
mild mottling even when exposed to a very
low concentration of fluoride.
 These findings may be related to individual
variation in total water consumption and
thus to total fluoride intake
Clinical Features
 Depending upon the level of fluoride in the water
supply,Wide range of severity in the Appearance of
mottled teeth, varying from:
(1)questionable changes characterized by
occasional white flecking or spotting of the
enamel,
(2) mild changes manifested by white opaque
areas
involving more of the tooth surface area
(3) moderate and severe changes showing pitting
and brownish staining of the surface and
(4) a corroded appearance of the teeth.

 Those teeth which are moderately or severely

affected may show a tendency for wear and
even fracture.
Treatment
 Mottled enamel frequently becomes
stained an unsightly brown color.
 For cosmetic reasons, it has become the
practice to bleach the affected teeth with
an agent such as hydrogen peroxide.
 This is frequently effective, but the
procedure must be carried out
periodically, since the teeth continue to
stain.
Hypoplasia due to Idiopathic
Factors
 Although numerous factors have been
reported as being possibly responsible for
causing enamel hypoplasia, clinical studies
have shown that, even with careful histories,
the majority of cases are of unknown origin.
 Since the ameloblast is a sensitive type of cell
and easily damaged, it is likely that in those
cases in which the etiology cannot be
determined, the causative agent may have
been some illness or systemic disturbance so
mild that it made no impression on the
patient and was not remembered.