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Structure of the periodontium in cathepsin C-deficient mice.
[papillon-lefèvre syndrome]
Papillon-
Lefevre
syndrome
is
characterized
by
increased
susceptibility
to
early
-onset
periodontitis
and
is
caused
by
mutations
in
the
cathepsin
C
gene
.
How
deficiency
of
the
enzyme
relates
to
an
increased
periodontal
infection
risk
is
still
not
entirely
clear
.
One
possibility
is
that
the
deficiency
leads
to
changes
in
the
structure
of
the
periodontal
tissues
as
a
result
of
which
its
barrier
function
to
pathogens
is
compromised
.
We
studied
the
structure
of
the
periodontium
in
9
-
month
-old
cathepsin
C
-
deficient
mice
(
cathepsin
C
(
-
/
-
)
)
and
compared
this
with
age-matched
wild-
type
mice
.
Our
observations
showed
that
the
overall
structure
of
the
gingiva
,
periodontal
ligament
,
alveolar
process
,
and
cementum
layer
are
normal
in
cathepsin
C
(
-
/
-
)
mice
,
with
one
exception
,
namely
that
epithelial
rests
of
Malassez
in
the
periodontal
ligament
of
the
cathepsin
C
(
-
/
-
)
mice
are
slightly
enlarged
.
In
both
experimental
and
control
animals
,
we
noted
cyst
formation
in
rests
of
Malassez
.
No
signs
of
periodontal
infection
were
observed
.
It
is
concluded
that
cathepsin
C
deficiency
does
not
lead
to
major
changes
in
the
structure
of
the
periodontium
.
Diseases
Validation
Diseases presenting
"increased periodontal infection risk"
symptom
papillon-lefèvre syndrome
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