Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Papillon-Lefevre syndrome: Report of two cases in the same family.
[papillon-lefèvre syndrome]
Papillon-
Lefevre
syndrome
is
a
very
rare
syndrome
of
autosomal
recessive
inheritance
characterized
by
palmar
-
plantar
hyperkeratosis
and
early
onset
of
a
severe
destructive
periodontitis
,
leading
to
premature
loss
of
both
primary
and
permanent
dentitions
.
Various
etiopathogenic
factors
are
associated
with
the
syndrome
but
a
recent
report
has
suggested
that
the
condition
is
linked
to
mutations
of
the
cathepsin
C
gene
.
Two
cases
of
Papillon-
Lefevre
syndrome
in
the
same
family
,
having
all
of
the
characteristic
features
,
are
presented
.
An
11
-
year
-old
girl
and
a
9
-
year
-old
boy
presented
with
the
complaints
of
loose
teeth
.
Both
expressed
hyperkeratosis
of
palms
,
soles
,
and
knees
.
Severe
generalized
periodontal
destruction
,
with
mobility
of
teeth
,
was
evident
on
intraoral
examination
;
orthopantomograph
examination
showed
severe
generalized
loss
of
alveolar
bone
in
both
the
patients
.
Diseases
Validation
Diseases presenting
"plantar hyperkeratosis"
symptom
papillon-lefèvre syndrome
triple a syndrome
This symptom has already been validated
