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Hereditary dentine disorders: dentinogenesis imperfecta and dentine dysplasia.
[papillon-lefèvre syndrome]
The
hereditary
dentine
disorders
,
dentinogenesis
imperfecta
(
DGI
)
and
dentine
dysplasia
(
DD
)
,
comprise
a
group
of
autosomal
dominant
genetic
conditions
characterised
by
abnormal
dentine
structure
affecting
either
the
primary
or
both
the
primary
and
secondary
dentitions
.
DGI
is
reported
to
have
an
incidence
of
1
in
6
,
000
to
1
in
8
,
000
,
whereas
that
of
DD
type
1
is
1
in
100
,
000
.
Clinically
,
the
teeth
are
discoloured
and
show
structural
defects
such
as
bulbous
crowns
and
small
pulp
chambers
radiographically
.
The
underlying
defect
of
mineralisation
often
results
in
shearing
of
the
overlying
enamel
leaving
exposed
weakened
dentine
which
is
prone
to
wear
.
Currently
,
three
sub-types
of
DGI
and
two
sub-types
of
DD
are
recognised
but
this
categorisation
may
change
when
other
causative
mutations
are
found
.
DGI
type
I
is
inherited
with
osteogenesis
imperfecta
and
recent
genetic
studies
have
shown
that
mutations
in
the
genes
encoding
collagen
type
1
,
COL
1
A
1
and
COL
1
A
2
,
underlie
this
condition
.
All
other
forms
of
DGI
and
DD
,
except
DD
-
1
,
appear
to
result
from
mutations
in
the
gene
encoding
dentine
sialophosphoprotein
(
DSPP
)
,
suggesting
that
these
conditions
are
allelic
.
Diagnosis
is
based
on
family
history
,
pedigree
construction
and
detailed
clinical
examination
,
while
genetic
diagnosis
may
become
useful
in
the
future
once
sufficient
disease-causing
mutations
have
been
discovered
.
Differential
diagnoses
include
hypocalcified
forms
of
amelogenesis
imperfecta
,
congenital
erythropoietic
porphyria
,
conditions
leading
to
early
tooth
loss
(
Kostmann
's
disease
,
cyclic
neutropenia
,
Chediak-
Hegashi
syndrome
,
histiocytosis
X
,
Papillon-
Lefevre
syndrome
)
,
permanent
teeth
discolouration
due
to
tetracyclines
,
Vitamin
D-
dependent
and
vitamin
D-
resistant
rickets
.
Treatment
involves
removal
of
sources
of
infection
or
pain
,
improvement
of
aesthetics
and
protection
of
the
posterior
teeth
from
wear
.
Beginning
in
infancy
,
treatment
usually
continues
into
adulthood
with
a
number
of
options
including
the
use
of
crowns
,
over-dentures
and
dental
implants
depending
on
the
age
of
the
patient
and
the
condition
of
the
dentition
.
Where
diagnosis
occurs
early
in
life
and
treatment
follows
the
outlined
recommendations
,
good
aesthetics
and
function
can
be
obtained
.
Diseases
Validation
Diseases presenting
"small pulp chambers"
symptom
dentin dysplasia
papillon-lefèvre syndrome
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