38

Dentinogenesis
imperfecta
SUMMARY
Siobhan is 9 years old. She and her parents are con-
cerned because her permanent teeth are darker
than normal and she is getting teased at school.
What is the cause of the discoloration? How would
you treat it?
History
Siobhans mother says she noticed that when the permanent
teeth erupted they looked darker. Siobhan is very unhappy
at school and refuses to smile for any photographs. When
she talks she has the habit of covering her mouth with a
hand so it is impossible to see her teeth. What can you see
in Figure 38.1A? What key questions do you need to ask?
Was there any systemic illness from birth until early
childhood?
No. Siobhan had no illness.
Were the primary teeth similarly afected?
The primary teeth erupted normally but very quickly
chipped away becoming worn to gum level.
Is anyone else in the family similarly afected?
Siobhans brother and her father have a problem with their
teeth. Siobhans brother is 14 and he has needed crowns on
his back teeth and veneers on his front teeth. Siobhans
father needed a lot of treatment when he was younger and
has had some teeth crowned. Many of his posterior teeth,
however, were extracted.
Even before you have examined the mouth, the history
suggests that Siobhan has an inherited defect. Figure 38.1A
conrms your suspicion that this is dentinogenesis imper-
fecta (DI).
Why is this DI and not amelogenesis imperfecta (AI)?
The teeth are translucent.
The enamel is poorly adherent to the underlying dentine
and easily chips and wears. The remaining primary canines
and molars in Figures 35.1A, B are worn to gingival
level and have a translucent opalescent appearance.
What investigations do you need to do to confrm your
suspicions?
Dental panoramic tomogram
If this is DI, the dental panoramic radiograph will probably
show the following:
Bulbous crowns with pronounced cervical constriction.
Shortened roots.
Progressive pulp chamber and canal obliteration
(Fig. 38.2 (dierent case)).
Spontaneous periapical abscess formation.
Family examination
Family examination of aected members.
Dentine defects like those of enamel may be subdivided
by cause into two main groups based on whether they
are of genetic or environmental origin.
Dentine anomalies that are genetically determined may
appear to be limited to the dentition or form part of a
more complex generalized disorder (Box 38.1).
The most well documented hereditary dentine defects
are DI type II (hereditary opalescent dentine), which only
affects teeth, and DI type I, in which abnormalities of teeth
are associated with osteogenesis imperfecta.
Fig. 38.1 (A) Dentinogenesis imperfecta. Fig. 38.1 (B) Dentinogenesis imperfecta.
38 D E N T I N O G E N E S I S I M P E R F E C T A

154
Box 38.1 Hereditary dentine defects
Limited to the dentine
Dentinogenesis imperfecta type II (hereditary opalescent dentine).
Dentine dysplasia type I (radicular dentine dysplasia).
Dentine dysplasia type II (coronal dentine dysplasia).
Fibrous dysplasia of dentine.
Associated with generalized disorder
Osteogenesis imperfecta (dentinogenesis imperfecta type I).
Ehlers-Danlos syndrome.
Brachioskeletogenital syndrome.
Vitamin D resistant rickets.
Vitamin D dependent rickets.
Hypophosphatasia.
Limited to the dentine
Dentinogenesis imperfecta type II (hereditary opalescent dentine).
Dentine dysplasia type I (radicular dentine dysplasia).
Dentine dysplasia type II (coronal dentine dysplasia).
Fibrous dysplasia of dentine.
Associated with generalized disorder
Osteogenesis imperfecta (dentinogenesis imperfecta type I).
Ehlers-Danlos syndrome.
Brachioskeletogenital syndrome.
Vitamin D resistant rickets.
Vitamin D dependent rickets.
Hypophosphatasia.
Shell teeth. This is rare and seen in the primary dentition.
The pulp remains large and the thin enamel and dentine
rapidly fragments to cause pulpal infection.
DI type III (brandy wine type). This was rst described in
Maryland USA and has been traced back to East Anglia in
England. It was apparently taken to the USA by one of
the sailors who accompanied the Pilgrim Fathers to
Maryland. More recently type III defect has been linked
to the same locus on chromosome 4q21 as DI type II.
DI type I associated with osteogenesis imperfecta
Osteogenesis imperfecta is a group of connective tissue dis-
orders involving inherited abnormalities of type I collagen.
Increased bone fragility is only one aspect of the condition
which may include lax joints, blue sclerae, opalescent teeth,
hearing loss and a variable degree of bone deformity. The
inheritance pattern is either autosomal recessive or domi-
nant. The recessive form is often lethal around birth.
Opalescent teeth are only rarely seen in surviving reces-
sive types. They are commonly a feature of the dominant
variety with accompanying bone fragility, bone deformity
and blue sclerae.
The primary teeth in DI type I resemble exactly those in
DI type II. However, in the permanent dentition the defect
is extremely variable. In many cases the upper anterior teeth
may have a normal colour and appearance whereas the
lower incisors and canines are opalescent, discoloured
bluish-brown and wear at the incisal edges. In most cases
the enamel does not chip away from underlying dentine as
readily as in type II.
Radiographic appearances are as already described with
the exception that upper teeth may retain their pulp spaces
long after those in the lower jaw. Histological appearances
are indistinguishable from type II.
Environmentally determined dentine defects do exist but
are less well documented than corresponding anomalies of
enamel: trauma, nutritional deciencies (minerals, proteins
and vitamins) and drugs (tetracycline, chemotherapeutic
agents cyclophosphamide) will likely produce increased
interglobular dentine, predentine and osteoid.

DI type II
Both dentitions are usually affected. The severity of the
defect varies considerably between families and within
families. Primary teeth tend to be more severely affected
than permanent teeth and the later forming permanent teeth
may be the least affected. Enamel tends to chip away from
the underlying amelodentinal junction (ADJ), exposing the
abnormally soft dentine that undergoes rapid wear. This
is most marked in the primary dentition where, within 2
years, the crowns may be worn to the gingival margin
and appear as amber-coloured remnants ( Fig. 38.1B ), which
may be frequently infected and abscessed. In the permanent
dentition following eruption the enamel may look reason-
ably normal, but histological studies have shown hypo-
mineralized areas in approximately one-third of cases.
Radiographic signs are mentioned above. Histologically,
the ADJ may appear attened, and while the subadjacent
peripheral dentine may approach normality, the remainder
is grossly disordered with an amorphous matrix containing
areas of interglobular calcication, abnormally shaped and
sized tubules, and cellular inclusions.
Is DI more prevalent than AI?
Possibly, gures of 1 in 8000 have been estimated (AI
1 : 10 000).
Has DI got as many inheritance patterns as AI?
No. Invariably it is autosomal dominant with marked
expressivity and good penetrance. Two clinical variants of
the condition have been described.
Key point
Dentinogenesis imperfecta:
Occurs in 1 in 8000 of the population.
May be associated with osteogenesis imperfecta.
Treatment
The main clinical problems associated with AI and DI, and
the key points of treatment objectives are covered in Chapter
37 . The principles of treatment for DI are the same as those
for AI with the exception that in the permanent dentition
from age 16 crown-lengthening procedures are more
common in DI and the provision of overdentures and full
Fig. 38.2 Obliteration of root canals and pulp chambers in
dentinogenesis imperfecta.
38 D E N T I N O G E N E S I S I M P E R F E C T A
155

dentures is not uncommon. The role of implants in these

patients has yet to be dened.
Siobhans major concern was of the colour of her perma-
nent incisors. There was some wear of rst permanent
molars. The rst permanent molars were treated with
adhesive castings with micromechanical retention to luting
cement (Fig. 38.1B). The upper and lower incisors were
veneered with composite resin. This can be extended to
include the canines and premolars when the arches are com-
plete. The composite veneers can be replaced by porcelain
veneers around the age of 18 years.
Young children with DI often pose the greatest problems.
The teeth undergo such excessive wear that they become
worn down to gingival level and are unrestorable. Teeth
affected by DI are also prone to spontaneous abscesses due
to the progressive obliteration of the pulp chambers. In
these cases pulp therapy is unsuccessful and extraction of
the affected teeth is necessary.
Early consultation with an orthodontist is advisable in
inherited abnormalities of enamel and dentine in order to
keep the orthodontic requirements simple. Treatment for
these patients is possible and in many cases proceeds
without problems. The use of removable appliances, where
appropriate, and orthodontic bands rather than brackets
will minimize the risk of damage to the abnormal enamel.
The problem is twofold: there may be frequent bond failure
during active treatment or the enamel may be further
damaged during debonding. Some orthodontists prefer to
use bands even for anterior teeth, while others will use
glass ionomer cement as the bonding agent in preference to
more conventional resin-based agents. In other instances,
cosmetic restorative techniques (veneers and crowns) may
be more appropriate than orthodontic treatment.
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 38, page 200.
41

200
MI N D MA P 3 8
alleviate symptoms
maintain / restore occlusal height
improve aesthetics
Treatment principles
adhesive restorations
SSCs
cast onlays
full crowns
composite veneers
porcelain veneers
Treatment modalities
type I (associated with
osteogenesis imperfecta)
type II (unassociated with
osteogenesis imperfecta)
Main clinical types
autosomal dominant Inheritance
1 in 8000 Incidence
osteogenesis imperfecta
EhlersDanlos syndrome
brachio-skeletogenital syndrome
vitamin D resistant rickets
vitamin D dependent rickets
hypophosphatasia
Generalized disorder association
Dentinogenesis Imperfecta