JN KAPOOR D.A.

V (C) DENTAL COLLEGE AND HOSPITAL

YAMUNANAGAR

AMELOGENESIS IMPERFECTA

SUBMITTED TO , SUBMITED BY,

DR. AJAY KUMAR BANSAL RAJAT KANSAL

BDS 3RD YEAR

 CONTENTS

1.INTRODUCTION

2.EPIDEMIOLOGY

3.ETIOLOGY

4.CLINICAL FEATURES

5.DIAGNOSIS

6.DIFFERENTIAL DIAGNOSIS

7.TREATMENT

8.RADIOGRAPHICAL FEATURES

9.HISTOLOGICAL FEATURES

10.CONCLUSIONS

11.REFERENCES
INTRODUCTION
Amelogenesis imperfecta (AI) is a multifarious assemblage of inherited conditions that
disturbs the developing enamel structure and presents independently of any related systemic
disorder.1 Improper differentiation of ameloblasts in AI causes poor development or complete
absence of enamel of the teeth. Both the primary and permanent dentition may be affected by
this enamel anomaly. AI encompasses a group of hereditary diseases that involve the
defective formation or calcification of enamel. The occurrence of enamel defects without any
sign of generalized or systemic defects is the pathognomic feature of AI. Non-enamel
anomalies such as delayed eruption, crown resorption, congenitally missing teeth, pulpal
calcifications, dental follicular hamartomas, and gingival hyperplasia had been found to be
associated with AI. Exclusion of extrinsic environmental or other factors, the establishment of
a likely inheritance pattern, and recognition of phenotype and correlation with the dates of
tooth formation to exclude a chronological developmental disturbance involves diagnosis.

Amelogenesis imperfecta (AI) is a multifarious assemblage of inherited conditions that

disturbs the developing enamel structure and presents independently of any related systemic
disorder.1 Improper differentiation of ameloblasts in AI causes poor development or complete
absence of enamel of the teeth. Both the primary and permanent dentition may be affected by
this enamel anomaly. AI encompasses a group of hereditary diseases that involve the
defective formation or calcification of enamel. The occurrence of enamel defects without any
sign of generalized or systemic defects is the pathognomic feature of AI. Non-enamel
anomalies such as delayed eruption, crown resorption, congenitally missing teeth, pulpal
calcifications, dental follicular hamartomas, and gingival hyperplasia had been found to be
associated with AI. Exclusion of extrinsic environmental or other factors, the establishment of
a likely inheritance pattern, and recognition of phenotype and correlation with the dates of
tooth formation to exclude a chronological developmental disturbance involves diagnosis.

AI affects both dentitions (deciduous and permanent). Teeth exhibit yellow to dark brown
discoloration. The consistency varies from cheesy to hard. The teeth exhibit pits and grooves
and in some cases enamel may be completely absent. In Type I/hypoplastic AI, enamel is
well-mineralized but is reduced in quantity. There is a deficiency of enamel matrix. In type
II/hypomaturation AI, enamel is of normal thickness but has a mottled appearance. In Type
III/hypocalcified AI, enamel is of a normal thickness that often chips and abrades easily. AI
may be allied with some other dental and skeletal developmental defects or abnormalities.8
We present here two case reports of AI (hypo maturative and hypoplastic) along with a
complete review that we diagnosed on the basis of clinical and radiographic
EPIDEMIOLOGY
AI had been first reported in 1890. It was considered a clinical entity distinct from dentinogenesis
imperfecta only in 1938.

AI affects 1 of 14,000 to 16,000 children in the United States.

Of this number, about 40% have the hypocalcified dominant type.

The autosomal dominant and recessive forms of the disorder affect males and females in
equal numbers.

The X-linked dominant type of the disorder affects twice as many males as females.

The X-linked recessive type affects only males.

CLASSIFICATION
There are numerous classification systems and the most widely accepted is that proposed by
Witkop and Sank in 1976, which considers the inheritance pattern of the disorder, as well as
its specific clinical characteristics. Aldred and Crawford proposed a new classification that
not only evaluates the phenotype but also the molecular disorder, the biochemical
composition of the enamel, and the mode of inheritance of the defect. Witkop and Rao,
(1971) classified based on phenotype and style of inheritance.

Three broad categories: Hypoplastic, Hypocalcified, Hypomaturation.

a. Hypoplastic

• A u t o s o m a l d o m i n a n t h y p o p l a s t i c - hypomaturation with taurodontism

(subdivided into a and b according to author)

• Autosomal dominant smooth hypoplastic with eruption defect and resorption of teeth

• Autosomal dominant rough hypoplastic

• Autosomal dominant pitted hypoplastic

• Autosomal dominant local hypoplastic

• X-linked dominant rough hypoplastic b. Hypocalcified

• Autosomal dominant hypocalcified c. Hypomaturation

• X-linked recessive hypo maturation

• Autosomal recessive pigmented hypo maturation

• Autosomal dominant snow-capped teeth

• White hypomature spots? Aldred and Crawford, 1995.6

Classification based on:

(a) Molecular defect (when known)

(b) Biochemical result (when known)

(c) Mode of inheritance

(d) Phenotype
ETIOLOGY
Dental enamel, a highly mineralized tissue has over 95% of its volume being occupied by unusually
large, highly organized, hydroxyapatite crystals.

The formation of enamel has been highly organized, and unusual structure is thought to be
rigorously controlled in ameloblasts.

This has been through the interaction of a number of organic matrix molecules.

They include enamelin (ENAM; 4q21), amelogenin (AMELX; Xp22.3-p22.1), ameloblastin (AMBN;
4q21), tuftelin (TUFT1; 1q21), amelotin (AMELOTIN; 4q13), dentine sialophosphoprotein (DSPP;
4q21.3), kallikrein 4 (KLK4; 19q13.3–q13.4), matrix metalloproteinase 20 (MMP20; 11q22.3–q23).
CLINICAL FEATURES
Affects both dentitions (deciduous and permanent).

Teeth exhibit yellow to dark brown discoloration, the consistency varying from cheesy to
hard.

The teeth exhibit pits and grooves and in some cases enamel may be completely absent.

Type I/hypoplastic

AI Enamel is well-mineralized but is reduced in quantity. Clinically grooves and pits will be
realized on the surface of the fine enamel. The rough pattern of hypoplastic type exhibits thin,
hard, and rough surfaced enamel. The tooth is tapered toward the incisal/occlusal face and
has open contact points. There is a deficiency of enamel matrix. In about 50% of cases, the
anterior open bite is noticed as a result of a decreased crown height.

Type II/hypomaturation

AI Enamel is of normal thickness but has a mottled appearance. It is slightly softer than
normal enamel, is easily penetrated by the point of a probe and chips away from the crown.
Enamel appears clear to cloudy, mottled yellow to brown. Enamel has random alternating
vertical bands of either opaque white or opaque yellow enamel with bands of translucent
normal enamel.8 AI may be allied with some other dental and skeletal developmental defects
or abnormalities. They are crown and root resorption, attrition, taurodontism, delayed
eruption, and tooth impaction, dens in dente, pulp stones, anterior open bite, and agenesis of
teeth.8 AI is sometimes associated with syndromes such as AI with taurodontism, tricho-
dento osseous syndrome, AI with nephrocalcinosis, and cone-rod dystrophy with AI.

Type III/hypocalcified

AI This variety of AI appears as opaque white to yellow-brown discoloration with soft and
rough enamel surface. Dentin sensitivity and the open bite are common, as well as heavy
calculus formation. This type of AI has normal thickness with enamel that often chips and
abrades easily. Enamel has a contrast similar to or less than that of dentin. Unerupted crowns
have normal morphology.
DIAGNOSIS

Amelogenesis imperfecta is typically diagnosed by a dentist. They will take a family history
and perform an oral exam to assess the enamel.

Your dentist will take X-rays both inside and outside your mouth, but usually the diagnosis
can be made by visual examination.

A radiographic exam can help your dentist see contrast between the enamel and dentin of
your teeth.

This type of exam aids them in assessing the density of your tooth enamel. Knowing the
density can help your dentist determine which type of treatment you need.
DIFFERENTIAL DIAGNOSIS
Extrinsic disorders of tooth formation, chronological disorders of tooth formation, and
localized disorders of tooth formation should be considered in the differential diagnosis.

The differential diagnosis considered most probable 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, entails
careful interrogation to distinguish from AI.

Fluorosis may present with areas of horizontal white banding corresponding to periods of
more intense fluoride intake.

The premolars or second molars are normally spared (chronological distribution).

The history often reveals excessive fluoride intake in terms of a habit, such as eating
toothpaste in childhood or related to a local water supply
TREATMENT

At the moment, there is no standard treatment for amelogenesis imperfecta. Treatment

depends on the type and severity of the condition. Your dentist will have to also take into
consideration your age, the overall condition of your teeth, and the treatments you can afford.

Some examples of treatment options include:

Bonding

In tooth bonding, high-density, modern plastics called composite resins or porcelain veneers
are attached to teeth to fill in gaps. Bonding procedures are often used for people with
hypoplastic amelogenesis imperfecta because their teeth are usually hard enough to hold on
to the bond.

Full crown restoration

A crown is a tooth-shaped cap that is placed over an existing tooth. It helps restore that
tooth’s shape and size.

In the hypocalcified and hypomaturation types, the enamel is usually too weak to hold on to
bonded restorations. So crowns are one of the most durable and predictable options for
restoring these teeth. Crowns can also help prevent or eliminate tooth decay.

Temporary crowns of gold, porcelain, or stainless steel can be created for children or
adolescents with the condition. Permanent crowns are often delayed by dentists until early
adulthood, when all the teeth are present and stable.

Orthodontic treatment

People with amelogenesis often need orthodontic treatment, such as braces or appliances. The
goal isn’t necessarily to make the teeth perfectly straight, but rather to get the teeth in a better
position for restorations.
Good dental hygiene

Before any restorative treatment can be done, it’s important to have optimal dental health.
Bleeding or inflamed gums (gingivitis) makes placement of bonded restorations extremely
difficult. Excellent oral hygiene at home is crucial.

If you have painful sensitivity to heat and cold, you can use a desensitizing toothpaste.

Visiting a dentist on a regular schedule to have a professional cleaning is also very important.

Low-sugar diet

Similar to good dental hygiene, diets that are low in sugar can help prevent cavities and gum
disease, promoting healthy teeth.

Dentures or overlay dentures

A denture is a removable artificial device. It’s designed to look like real teeth. An overdenture
or an overlay denture is a type of denture that lies directly on your existing teeth. Overlay
dentures are reversible and relatively inexpensive compared to other treatment options. They
can be a temporary or even permanent treatment option for people with a limited budget.

If tooth decay has already progressed too far, the teeth may have to be extracted. Traditional
dentures may then be necessary to replace the missing teeth.
CONCLUSION
AI is a serious problem resulting in reduced oral health-related quality of life.

People with AI need extensive treatment.

While planning the treatment, the age and the socioeconomic status of the patient, type, and
the severity of the disorder should be taken into consideration.

Radiology plays a very important role in an assessment of enamel density and to develop a
more appropriate treatment plan in patients with enamel defect.

The dentist has to balance the decision for early intervention and longtime survival of the
restorations to prevent later problems.

OUTLOOK

The earlier the treatment, the better the outlook. Proper dental care can help protect teeth
from further damage. If left untreated, the teeth and enamel may break. This damage can be
painful and will affect the overall appearance of the teeth.

With treatment, however, the teeth can look normal and remain functional for life. If you’re a
parent who thinks your child’s tooth enamel hasn’t developed properly, see your dentist.
COMPLICATIONS

Without effective enamel, your teeth are prone to damage and breakage, as well as gum
disease (gingivitis or periodontitis) and tooth decay. People with the condition will have to
practice stringent oral hygiene. They will need to visit their dentist more frequently for a
cleaning and evaluation. Most will need extensive dental treatment, which often poses a
significant financial burden for the person or their family.

In addition, because the condition affects the way teeth look, some people may experience
emotional or social issues, including depression and low self-esteem. Teenagers in particular
may become withdrawn due to the pressure to fit in among their peers.
RADIOGRAPHICAL FEATURES
Radiographs of amelogenesis imperfecta show total absence of enamel from the tooth surface
in many cases and whenever present, it is mostly seen on the tip of the cusps and on the
proximal areas.
The radiodensity of enamel in this disease is much less and is very close to that of the dentin.

Type I and II have similar radiographic features1

 Total obliteration of the pulp chamber and root canals due to deposition of dentine
 Bulbous crowns with apparent cervical constriction

 Reduced root length with rounded apices

Type III shows thin dentin and extremely enormous pulp chamber. These teeth are usually
known as "shell teeth".

Periapical radiolucency may be seen on radiographs but may occur without any apparent
clinical pathology2
HISTOLOGICAL FEATURES
Histopathological examination confirms that when enamel hypoplasia is the predominant
clinical finding, the enamel is reduced in thickness. The enamel-dentin junction may show
some exaggerated scalloping. Areas of homogeneous aprismatic enamel[26] or fused
indistinct prisms are seen, with “a reduction in the distance between enamel rod incremental
lines,” where any enamel rod can be identified.[27] The histology of the phenotype described
by Witkop[10,11] and Sauk et al.,[28] showed that the most marked defects in the enamel
were seen in the outer half. The enamel rod sheaths were lacking and filled with “pigmented
debris” or with “eosinophilic-staining material.” Ground sections showed voids within the
enamel, obliterating several rods (prisms). In the deeper enamel and the surface enamel, the
structure was more normal. Microradiography[29–31] has shown varying degrees of
radiographic defects of the enamel. Darling[29] described a zone of “markedly hypocalcified
enamel” (with no mention of discrete channels) adjacent to the enamel-dentin junction in two
teeth from a female with X-linked hypoplastic AI. Except for the ridged hypoplasia, the outer
enamel had appeared entirely normal clinically and microradiographically. Microradiographs
of deciduous molar teeth presented by Backman et al.,[30,31] from an affected male
(categorized as X-linked recessive hypoplastic) showed marked “demineralization” of the
enamel close to the enamel-dentin junction, with channels of demineralization extending to
the enamel surface. Although demineralization is a term usually applied to a posteruptive
pathological change, this was not suggested to be the case here. Under light microscopy,
McLarty et al..[32] found irregular spaces running from the enamel-dentin junction outward
in a male considered to have X-linked hypomaturation amelogenesis imperfecta. Some of
these consisted of tube-like structures that ended in a peripheral expansion. Although the
descriptions of the enamel in the reports of McLarty et al.,[32] and Haug and Ferguson[20]
are consistent with a hypomineralization defect, the additional finding of enamel wrinkling in
the females indicates some degree of hypoplasia. The observations of Darling[29] suggest
that although the wrinkled surface enamel corresponding to the hypoplastic form of X-linked
amelogenesis imperfecta may appear to be normally hard, there might be poorly mineralized
enamel in the deeper portions. Schulze[33] recorded that the teeth could be yellow, yellow-
red, or yellow-brown. It may be that the discoloration, evident in the enamel of some families
reported as hypoplastic X-linked amelogenesis imperfecta, also indicates some degree of
hypomineralization. It is difficult otherwise to explain the abnormal color and / or lucency of
this tissue.
1. Rios D, Falavinha A, Tenuta L, Machado M (2005). Osteogenesis imperfecta and
dentinogenesis imperfecta: associated disorders. Quintessence Int. pp. 695–701.
2. ^ Jump up to: a b c d Pettiette M, Wright JT, Trope M (1998). "Dentinogenesis
imperfecta: endodontic implications. Case report". Oral Surg Oral Med Oral Path Oral Radiol
Endod. 86: 733–737. doi:10.1016/s1079-2104(98)90213-x.