Box 37.

1 Developmental abnormalities of enamel

General factors
Genetic:
Primarily involving enamel amelogenesis imperfecta.
Associated with generalized defects.
Systemic (chronological):
Nutritional defciencies.
Metabolic or biochemical disorder.
Toxic substances.
Infectious illnesses: pre-natal; peri-natal; neonatal; infancy; early childhood.
Idiopathic.
Local factors
Trauma.
Infection.
37
Amelogenesis imperfecta
SUMMARY
Mark is 10 years old. He and his parents are con-
cerned because his teeth seem rough. They also stain
easily. What is the cause of these problems? What
treatment is possible?
What can you see in Figure 37.1 ?
All erupted teeth have hypoplastic enamel.
History
Mark s mother says that she noticed when the teeth rst
erupted that they were rough. They pick up stain and are
difcult to clean. What key questions do you need to ask?
Was there any systemic illness from birth to early
childhood?
No.
Were the primary teeth similarly afected?
There was a slight roughening of the primary teeth, although
nothing as bad as the permanent teeth.
Is anyone else in the family similarly afected?
Mark s father and his cousin (father s brother s son) have
similar roughness of their teeth.
After having obtained this history it is most likely that
Mark has an inherited enamel defect involving enamel
amelogenesis imperfecta. However, defective enamel for-
mation may be caused by genetic or environmental factors.
The defective enamel will exhibit either hypoplasia, due to
Fig. 37.1 Hypoplastic amelogenesis imperfecta.
Enamel defects of genetic origin may occur either as a
phenomenon primarily involving the enamel, with possible
secondary effects in other dental tissues and craniofacial
structures, or as a component of a more complex syndrome
in which defective enamel is only one of a number of more
generalized abnormalities.
Medical history
Mark has no medical problems. He is doing very well at
school and is a keen basketball player.
Examination
Intraoral examination revealed that all the surfaces of all
the erupted permanent teeth are affected by a roughness or
pitting ( Fig. 37.1 ). The second primary molar teeth that
were still present were also affected by a similar roughness
that, although not as evident on visual examination, was
obvious on tactile examination with a probe. There was no
tooth wear.
Why is this pattern of enamel hypoplasia unlikely to be
caused by systemic (chronological) infuences?
Primary teeth were aected.
All the enamel surface of the teeth is aected.
Amelogenesis imperfecta (AI) occurs as a result of single gene
mutations that follow autosomal-dominant, autosomal-
recessive or X-linked patterns of inheritance. The prevalence
varies around the world with rates of 1 in 718 in northern
Sweden and 1 in 14 000 in Michigan, USA. A global quoted
gure is often 1 in 10 000.
What are the main types of AI?
Hypoplastic.
Hypomineralized: hypocalcied or hypomature.
Mixed .
decient matrix production, or hypomineralization, from
imperfect mineralization of the matrix proteins. In hypopla-
sia the enamel may be thin, grooved or pitted, whereas in
hypomineralization it may appear mottled but of normal
thickness. The complete range of the causes of developmen-
tal abnormalities of enamel are shown in Box 37.1 .
37 A ME L O G E N E S I S I MP E R F E C T A
151

Dental panoramic tomogram

This will conrm the presence of all the permanent dentition.
In addition it will diagnose any taurodontism. This is most
marked in type IV AI but can aect permanent molars,
particularly in the maxilla in other types of AI more frequently
than is the norm for the Caucasian population.
Family examination
If it is possible to examine Marks fathers and his cousins
teeth this will help to conrm your diagnosis.
Treatment
The treatment of both amelogenesis and dentinogenesis
imperfecta requires early diagnosis in order to improve the
long-term prognosis of teeth. Parents need to be educated
as to the implications of the condition, and prevention (diet
counselling, uoride supplementation, oral hygiene instruc-
tion (OHI)) is a crucial element in the success of any restora-
tive treatment.
There are four main clinical problems associated with
inherited enamel and dentine defects:
Poor aesthetics.
Chipping and attrition of the enamel.
Exposure and attrition of the dentine causing sensitivity.
Poor oral hygiene, gingivitis and caries.
While it is impossible to draw up a denitive treatment
plan for all cases, it is possible to dene the principles of
treatment planning for this group of patients. It is important
to realize that not all children with amelogenesis imperfecta
or dentinogenesis imperfecta are affected equally. Many
will not have marked tooth wear or symptoms, and will
not require advanced intervention. Table 37.2 describes the
principles of treatment in terms of the age of the child/
adolescent and with regard to the three aspects of care:
prevention, restoration and aesthetics.
Table 37.1 Types of amelogenesis imperfecta
Type Description
Type 1 Hypoplasia
1A Autosomal-dominant, thin and smooth hypoplasia with eruption defect
1B Autosomal-dominant, thin and rough hypoplasia
1C Autosomal-dominant, randomly pitted hypoplasia
1D Autosomal-dominant, localized hypoplasia
1E Autosomal-recessive, localized hypoplasia
1F X-linked hypoplasia
1G Autosomal-recessive, thin and rough hypoplasia (agenesis)
Type II Hypocalcication
IIA Autosomal-dominant, hypocalcication
IIB Autosomal-recessive, hypocalcication
Type III Hypomaturation
IIIA X-linked hypomaturation
IIIB Autosomal-recessive, pigmented hypomaturation
IIIC Autosomal-dominant, snow-capped teeth
Type IV Hypomaturationhypoplasia with taurodontism
IVA Autosomal-dominant, hypomaturation with pitted hypoplasia and
taurodontism
IVB Autosomal-dominant, hypomaturation with thin hypoplasia and taurodontism
Table 37.2 Treatment modalities for amelogenesis imperfecta
Restoration Aesthetics
Primary dentition:
05 years
Adhesive restorations Minimal intervention
Stainless steel crowns
(SSCs) especially on es
Compomer/composite veneers
Mixed dentition:
616 years
Adhesive restorations/SSCs
on primary molars
Composite veneers
SSCs/adhesive castings on
permanent molars
Permanent dentition:
16+ years
Adhesive castings on
premolars
Porcelain veneers
Full mouth rehabilitation
crown lengthening
Full crowns
Fig. 37.2 Hypomature amelogenesis imperfecta.
Genetic enamel defects can be associated with general-
ized disorders in a number of uncommon or rare geneti-
cally determined diseases and clinical syndromes. These
diseases and complex syndromes include epidermolysis
bullosa, tuberous sclerosis, pseudohypoparathyroidism,
trichodento-osseous syndrome, oculodento-osseous dys-
plasia, vitamin D-dependent rickets, amelo-cerebrohypo-
hidrotic syndrome, amelo-onychohypohidrotic syndrome
and some types of mucopolysaccharidosis.
Mark probably has type 1B, autosomal-dominant, thin
and rough hypoplasia. An example of a hypomature form
of AI is shown in Figure 37.2.
Investigations
What investigations are necessary?
Key point
Main treatment aims for dental anomalies:
To alleviate symptoms.
To maintain/restore occlusal height.
To improve aesthetics.
Currently there are about 14 different types of AI on the
basis of genetic pattern, clinical and radiological features,
and histological changes. These are shown in Table 37.1.
37 A ME L O G E N E S I S I MP E R F E C T A

152
sive castings on posterior teeth. The latter may need to be
replaced in adolescence/early adulthood by a porcelain
bonded full crown (Table 37.2).
Recommended reading
Cameron A, Widmer R (eds) 2008 Dental anomalies. In:
Handbook of Paediatric Dentistry, 3rd edn. Mosby-
Wolfe, St Louis, pp 217277.
Crawford PJM, Aldred MJ 2005 Anomalies of tooth
formation and eruption. In: Welbury RR, Duggal MS,
Hosey MT (eds) Paediatric Dentistry, 3rd edn. Oxford
Univerty Press, Oxford, pp 297318.
For revision, see Mind Map 37, page 199.
Marks major concern was the staining and roughness of
his front teeth. Fortunately there was no wear of his poste-
rior teeth and his problem, therefore, was solely a cosmetic
one. The pitting or hypoplasia on the upper and lower inci-
sors can be masked by a thin, directly applied composite
veneer. This should be extended to include the canines and
rst premolars when the arches are complete. On occasions,
if the smile is a very wide one, it may be necessary to
include second premolars. Composite veneers can be
replaced by porcelain veneers at age 18 when the gingival
contour has achieved adult levels.
If the amelogenesis had been of the hypomineralized
variety with more destruction of enamel, it may have been
necessary to consider full porcelain crowns for aesthetics in
the anterior teeth and either stainless steel crowns or adhe-
41
199

MI N D MA P 3 7
alleviate symptoms
maintain / restore occlusal height
improve aesthetics
Treatment principles
adhesive restorations
SSCs
cast onlays
full crowns
composite veneers
porcelain veneers
Treatment modalities
hypoplastic
hypocalcified
hypomature
mixed
Main clinical types
autosomal dominant
autosomal recessive
X-linked
Inheritance
1 in 10000
Incidence
epidermolysis bullosa
tuberous sclerosis
pseudohypoparathyroidism
trichodento-osseous syndrome
occulodento-osseous dysplasia
vitamin D dependent rickets
Amelo-cerebrohypohidrotic syndrome
Amelo-onychohypohidrotic syndrome
mucopolysaccharidosis
Generalized disorder association
Amelogenesis Imperfecta