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Orodental manifestations in ectodermal dysplasia-a review.
[oligodontia]
Oral
signs
and
symptoms
are
present
in
most
ectodermal
dysplasias
(
EDs
)
.
The
aim
of
this
article
is
to
summarize
some
of
the
literature
on
current
knowledge
of
oral
manifestations
and
orofacial
function
in
EDs
.
The
review
will
focus
on
the
most
common
forms
where
dental
manifestations
can
be
crucial
for
a
differential
diagnosis
of
ED
among
individuals
with
hypodontia
and
oligodontia
,
and
preferably
where
the
investigations
included
persons
who
had
a
genetically
verified
diagnosis
.
Disturbances
in
tooth
development
are
common
and
can
appear
as
tooth
agenesis
,
variations
in
size
and
shape
of
teeth
,
defects
in
the
mineralized
tissues
,
and
problems
in
tooth
eruption
.
Abnormalities
in
number
,
size
,
and
shape
of
teeth
,
and
reduced
salivary
secretion
,
present
in
isolated
oligodontia
as
well
as
in
hypohidrotic
ED
and
incontinentia
pigmenti
.
In
some
more
rare
EDs
these
symptoms
appear
in
combination
with
clefts
of
lip
and
/
or
palate
in
some
affected
individuals
.
Leukokeratosis
in
the
oral
mucosa
presents
in
70
%
of
genetically
confirmed
cases
of
pachyonychia
congenita
.
Also
,
orofacial
function
is
often
affected
in
ED
,
due
to
malformations
,
an
incomplete
dentition
,
and
low
salivary
secretion
which
can
compromise
chewing
,
swallowing
,
and
speech
.
In
conclusion
,
there
is
a
clinical
overlap
in
oral
signs
and
symptoms
between
isolated
oligodontia
and
the
most
common
EDs
.
Studies
with
genetically
confirmed
diagnoses
and
larger
cohorts
,
as
well
as
multicenter
collaboration
and
the
establishing
of
international
registries
,
would
create
a
basis
for
refined
diagnostics
,
where
oral
examinations
should
be
an
integrated
part
of
clinical
assessment
.
Diseases
Validation
Diseases presenting
"genetically verified diagnosis"
symptom
oligodontia
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