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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
"pain"
symptom
achondroplasia
acute rheumatic fever
adrenal incidentaloma
adrenomyeloneuropathy
aniridia
aromatase deficiency
carcinoma of the gallbladder
cholangiocarcinoma
coats disease
congenital diaphragmatic hernia
congenital toxoplasmosis
cushing syndrome
cutaneous mastocytosis
cystinuria
dedifferentiated liposarcoma
dentin dysplasia
dracunculiasis
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
erdheim-chester disease
erythropoietic protoporphyria
esophageal adenocarcinoma
esophageal carcinoma
esophageal squamous cell carcinoma
fabry disease
familial mediterranean fever
focal myositis
hirschsprung disease
hodgkin lymphoma, classical
holt-oram syndrome
junctional epidermolysis bullosa
kabuki syndrome
kindler syndrome
lamellar ichthyosis
liposarcoma
locked-in syndrome
lymphangioleiomyomatosis
malignant atrophic papulosis
neuralgic amyotrophy
oligodontia
oral submucous fibrosis
papillon-lefèvre syndrome
phenylketonuria
pleomorphic liposarcoma
primary hyperoxaluria type 1
proteus syndrome
pyomyositis
scrub typhus
sneddon syndrome
systemic capillary leak syndrome
thoracic outlet syndrome
trochlear dysplasia
typhoid
von hippel-lindau disease
waldenström macroglobulinemia
well-differentiated liposarcoma
wolf-hirschhorn syndrome
This symptom has already been validated
