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A random Abstract
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Papillon-lefevre syndrome.
[papillon-lefèvre syndrome]
Papillon-
Lefevre
syndrome
is
a
rare
autosomal
recessive
disorder
caused
by
cathepsin
C
gene
mutation
leading
to
the
deficiency
of
cathepsin
C
enzymatic
activity
.
The
disease
is
characterized
by
palmoplantar
hyperkeratosis
,
loss
of
deciduous
and
permanent
teeth
and
increased
susceptibility
to
infections
.
Onset
of
palmoplantar
hyperkeratosis
and
periodontopathy
is
most
commonly
before
the
age
of
4
years
.
A
15
year
old
boy
with
a
history
of
frequent
infections
presented
with
hyperkeratosis
of
palms
and
soles
,
which
worsened
during
winter
season
.
Examination
of
the
oral
cavity
revealed
missing
mandibular
central
incisors
and
left
lateral
incisors
.
Most
remaining
permanent
teeth
were
mobile
.
Fibrosis
and
scarring
of
gingival
and
labial
mucosa
restricted
opening
of
the
mouth
.
Early
diagnosis
of
Papillon-
Lefevre
syndrome
may
help
preserve
the
teeth
.
We
present
a
case
of
a
late
diagnosis
of
this
syndrome
.
