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Papillon-Lefevre syndrome: A report of two cases.
[papillon-lefèvre syndrome]
Papillon-
Lefevre
syndrome
is
a
rare
(
1
-
4
cases
per
million
)
autosomal
recessive
disorder
showing
predominantly
oral
and
dermatological
manifestations
in
the
form
of
aggressive
periodontitis
affecting
both
primary
and
permanent
dentition
and
palmoplantar
hyperkeratosis
.
Genetic
studies
have
shown
that
mutations
in
the
major
gene
locus
of
chromosome
11
q
14
with
loss
of
function
of
cathepsin
C
gene
are
responsible
for
Papillon-
Lefevre
syndrome
.
This
report
presents
two
siblings
with
classic
signs
and
symptoms
of
Papillon-
Lefevre
syndrome
.
The
exact
cause
for
periodontal
destruction
in
patients
with
Papillon-
Lefevre
syndrome
is
not
known
but
it
is
thought
to
be
due
to
defect
in
neutrophil
function
,
immune
suppression
and
mutations
in
cathepsin
C
gene
.
Diseases
Validation
Diseases presenting
"loss of function"
symptom
adrenomyeloneuropathy
benign recurrent intrahepatic cholestasis
cadasil
canavan disease
congenital adrenal hyperplasia
cystinuria
familial hypocalciuric hypercalcemia
gm1 gangliosidosis
harlequin ichthyosis
hirschsprung disease
holt-oram syndrome
kabuki syndrome
kallmann syndrome
krabbe disease
lamellar ichthyosis
papillon-lefèvre syndrome
pendred syndrome
triple a syndrome
trochlear dysplasia
x-linked adrenoleukodystrophy
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