Dapus :

McDonald, Ralph E; Avery, David R; Dean, Jeffrey A.Dentistry for The Child and
Adolescent 8th ed. St. Louis : Mosby ; 2004.
p: 95 ;105-106.
Cameron Angus C, Richard P Widmer. Handbook of Pediatric Dentistry .3rd ed. China :
Elsevier ; 2008. p : 261-262

Kelainan Struktur Gigi

1. enamel

ENAMEL HYPOPLASIA
Amelogenesis occurs in two stages. In the fi rst stage, the
enamel matrix forms, and in the second stage, the matrix
undergoes calcifi cation. Local or systemic factors that
interfere with normal matrix formation cause enamel
surface defects and irregularities called enamel hypoplasia.
Factors that interfere with calcifi cation and maturation of
the enamel produce a condition termed enamel hypocalcifi
cation.
Enamel hypoplasia may be mild and may result in a
pitting of the enamel surface or in the development of a
horizontal line across the enamel of the crown. If ameloblastic
activity has been disrupted for a long period, gross
areas of irregular or imperfect enamel formation occur.
Enamel hypoplasia is often seen as one component of
many different syndromes.
Postnatal hypoplasia of the primary teeth is probably
as common as hypoplasia of the permanent teeth, although
the former usually does not occur in as severe a
form. Hypoplasia of the primary enamel that forms before
birth is rare, however (Fig. 7-12). In its mildest form,
a prenatal disturbance is refl ected as an accentuated neonatal
ring in the primary tooth. In the severe type of
neonatal disturbance, enamel formation is sometimes arrested
at birth or during the neonatal period (Fig. 7-13).
Seow and colleagues have observed that enamel hypoplasia
of the primary teeth is common in prematurely born, very-low-birth-weight children; its
pathogenesis is
not understood clearly.36 One likely mechanism is related
to mineral defi ciency, which may be diagnosed radiologically
as demineralization of long bones. These authors
believe that both local and systemic factors are involved.
An important local factor is trauma from laryngoscopy
and endotracheal intubation, which usually results in
localized enamel hypoplasia involving only the left maxillary
anterior teeth. Slayton and colleagues examined
698 well-nourished and healthy children 4 to 5 years of
age and found that 6% had at least one primary tooth
with enamel hypoplasia.37

figure 7-12 Prenatal enamel hypoplasia. The medical history

revealed that the patient suffered from cerebral palsy
as a result of premature birth (gestation, 6 months; birth
weight, 2 lb, 5 oz). (Courtesy Dr. Stanley C. Herman.)

Figure 7-13 Neonatal enamel hypoplasia. Only the most

cervical parts of the intrinsically stained areas are hypoplastic.
The child experienced severe nutritional defi ciency during
the fi rst month of extrauterine life. (Courtesy Dr. Stanley
C. Herman.)

AMELOGENESIS IMPERFECTA
As noted in Chapter 6, amelogenesis imperfecta is a developmental
defect of the enamel with a heterogeneous
etiology that affects the enamel of both the primary and
permanent dentition. The anomaly occurs in the general
population with an incidence of 1 in 14,000 to 1 in
16,000. Amelogenesis imperfecta has a wide range of
clinical appearances with three broad categories observed:
the hypocalcifi ed type, the hypomaturation
type, and the hypoplastic type. Although amelogenesis
imperfecta can occur as a part of several syndromes,
Cartwright and colleagues confi rmed that the trait itself
could also be associated with a skeletal anterior open
bite,87 although the pathophysiologic relationship between
amelogenesis imperfecta and open bite remains
unclear.88

Progress has been made in unraveling the molecular

basis of the myriad clinical forms of amelogenesis imperfecta.
Aldred and Crawford discussed the limitations of
the existing classifi cation systems and proposed an alternative
classifi cation based on the molecular defect, biochemical
result, mode of inheritance, and phenotype.89
Hart and colleagues recommended a standardized nomenclature
for describing amelogenesis imperfecta that
causes alterations at the genomic, complementary DNA,
and protein levels.90,91 Two clinically distinct forms of
autosomal dominant amelogenesis imperfecta—smooth
hypoplastic amelogenesis imperfecta and local hypoplastic
amelogenesis imperfecta—are associated with mutations
in the enamelin (ENAM) gene located at 4q21. In
addition, autosomal dominant amelogenesis imperfecta
can be associated with mutation in the Kallikrein-4
(KLK4) gene, and autosomal recessive pigmented hypomaturation
amelogenesis imperfecta with an enamelysin
(MMP-20) gene mutation, illustrating the heterogeneity
of the condition. An X-linked form (AIH1) has been
found to be associated with as many as 14 mutations in
the amelogenin (AMELX) gene, located at Xp21.92 However,
at least one family has had the trait linked to another
location on the chromosome Xq22-q28.93
The defective tooth structure is limited to the enamel.
On radiographic examination the pulpal outline appears
to be normal, and the root morphology is not unlike that
of normal teeth. The difference in the appearance and
quality of the enamel is thought to be attributable to the
state of enamel development at the time the defect occurs.
In the hypoplastic type, the enamel matrix appears
to be imperfectly formed; although calcifi cation subsequently
occurs in the matrix and the enamel is hard, it is
defective in amount and has a roughened, pitted surface
(Fig. 7-32). In the hypocalcifi ed type, matrix formation
appears to be of normal thickness, but calcifi cation is
defi cient and the enamel is soft (Fig. 7-33). In both of
these more common types of the defect, the enamel
becomes stained because of the roughness of the surface
and the increased permeability.
In still another variant of amelogenesis imperfecta a
thin, smooth covering of brownish yellow enamel is present.
In this type the enamel does not seem excessively
susceptible to abrasion or caries (Figs. 7-34 and 7-35).

Figure 7-32 Both the primary and permanent teeth are affected
by the hereditary anomaly amelogenesis imperfecta.
The enamel is pitted but hard.

Congleton and Burkes reported three cases of amelogenesis

imperfecta in which the patients also demonstrated
taurodontism.94 Others have identifi ed cases with
the clinical appearance of amelogenesis imperfecta and
taurodontism along with strikingly curly hair and increased
bone density (especially of the skull), which has
been identifi ed as trichodento-osseous syndrome (TDO).
Seow has suggested that some cases reported as amelogenesis
imperfecta with taurodontism were actually cases
of trichodento-osseous syndrome.95 Price and colleagues
found that this autosomal dominant condition is caused
by a mutation in the distal-less homeobox gene DLX3.96
Even though the taurodontism and amelogenesis imperfecta
traits in this condition are fully penetrant in affected
individuals, the osseous and hair features are variably
expressed even when the same deletion is present in
a family—fi ndings that indicate that the variable expression
is infl uenced by other genes and/or environmental
factors, although further studies by Price and colleagues
indicated that trichodento-osseous syndrome and amelogenesis
imperfecta of the hypomaturation-hypoplastic some cases of the hypomaturation and hypoplastic
types, bonded veneer restorations may offer a more conservative
alternative for management of the aesthetic
problem of the anterior teeth. Patel and colleagues have
reported successful treatment with porcelain laminate
veneer restorations.99

Figure 7-33 Hypocalcifi cation type of amelogenesis imperfecta.

The primary teeth were similarly affected. The
enamel surface is soft.

2. Dentin
Dentinogenesis imperfecta
Dentinogenesis imperfecta is an inherited disorder of dentine, which may or may not
be associated with osteogenesis imperfecta. The term ‘hereditary opalescent dentine’
is sometimes used for the isolated condition. Both osteogenesis imperfecta and dentinogenesis
imperfecta are transmitted as autosomal dominant traits and are clinically
indistinguishable dentally, although they have a different genetic basis. Osteogenesis
imperfecta is caused by mutations in the type I collagen genes and dentinogenesis
imperfecta to mutations in the dentine sialophosphoprotein I gene. Some individuals
and families with osteogenesis imperfecta may have clinical evidence of dentinogenesis
imperfecta but in other families there may be variable expression of the trait. Within
these families, some individuals may have abnormal dentine while others are clinically
unaffected as far as the teeth are concerned. However, because of the same collagen
defect, all such children with osteogenesis imperfecta may have abnormal dentine,
albeit at a subclinical level. The possibility of osteogenesis imperfecta should be considered
in children presenting with dentinogenesis imperfecta and investigated by
measurement of bone density if necessary. The presence of blue sclera or a history of
bone fractures should alert the clinician to osteogenesis imperfecta.
Dental manifestations! Amber, grey to purple-bluish discoloration or opalescence (Figure 9.29)
! Pulpal obliteration.
! Relatively bulbous crowns.
! Short, narrow roots.
! Enamel may be lost after tooth eruption, exposing the soft dentine, which rapidly
wears. This is probably due to inherent weakness in the dentine rather than
because of an enamel defect or abnormality at the dentinoenamel junction.
! Mantle dentine appears normal.
! Circumpulpal dentine has poorly formed dentine with abnormal direction of
tubules. Small soft-tissue inclusions represent remnants of pulpal tissue.
Figure 9.29 Manifestations of dentinogenesis imperfecta. A Dentinogenesis imperfecta
associated with osteogenesis imperfecta. Dark discoloration of the crowns which appear
normal in size and shape.

DENTIN DYSPLASIA
Dentin dysplasia is a rare disturbance of dentin formation
that Shields and colleagues categorized into two
types: radicular dentin dysplasia (type I) and coronal
dentin dysplasia (type II).78 Both primary and secondary
dentitions are affected in dentin dysplasia type I,
which is inherited as an autosomal dominant trait.
Radiographically the roots are short and may be more
pointed than normal. Usually the root canals and pulp
chambers are absent except for a chevron-shaped remnant
in the crown. The color and general morphology
of the crowns of the teeth are usually normal, although
they may be slightly opalescent and blue or brown.
Periapical radiolucencies may be present at the apices
of affected teeth.
Dentin dysplasia type II is inherited as an autosomal
dominant trait in which the primary dentition appears
opalescent and on radiographs has obliterated pulp chambers,
similar to the appearance in dentinogenesis imperfecta.
Unlike in dentinogenesis imperfecta, however, in
dentin dysplasia type II the permanent dentition has normal
color and radiographically exhibits a thistle tube
pulp confi guration with pulp stones.
Dean and colleagues, noting the phenotypic similarity
of dentinogenesis imperfecta, Shields type II, to that in
the primary dentition in dentin dysplasia type II, hypothesized
that these conditions may be due to different alleles
of the same gene.83 Investigation of a family with 10
of 24 members affected in three generations showed that
the candidate region for the dentin dysplasia type II gene
overlaps the likely location of the gene for Shields type II
dentinogenesis imperfecta. They suggested that a candidate
gene for dentinogenesis imperfecta Shields type II
and/or III should also be a candidate gene for dentin dysplasia
type II. Subsequently Rajpar and colleagues showed
that a DSPP missense mutation was present in a family
with dentin dysplasia type II, thereby confi rming the
hypothesis of Dean and colleagues.83,84 Further analysis
of the DSPP gene in patients with Shields type II dentinogenesis
imperfecta or dentin dysplasia type II suggests
that these dominant phenotypes result from the disruption
of signal peptide-processing and/or related biochemical
events that interferes with protein processing.85 This
is consistent with the assertion that dentin dysplasia type
II and Shields type II dentinogenesis imperfecta are
milder and more severe forms, respectively, of the same
developmental disease.86