Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Papillon-lefevre syndrome: Case series and review of literature.
[papillon-lefèvre syndrome]
Papillon-lefevre
syndrome
(
PLS
)
belongs
to
a
heterogeneous
group
of
skin
diseases
that
are
characterized
by
hyperkeratosis
of
palms
and
soles
.
It
is
a
type
IV
palmoplantar
keratosis
(
PPK
)
while
the
palmoplantar
keratodermas
share
some
features
of
PPK
,
they
are
etiologically
heterogeneous
.
PLS
differs
from
other
types
of
PPK
by
the
presence
of
severe
and
early
onset
periodontitis
.
Genetic
studies
have
shown
that
mutation
in
the
major
gene
locus
of
chromosome
11
q
14
with
the
loss
of
function
of
cathepsin-
C
(
CTSC
)
gene
is
responsible
for
PLS
.
CTSC
gene
mutations
are
causative
for
PLS
.
The
resultant
loss
of
CTSC
function
is
responsible
for
the
severe
periodontal
destruction
seen
clinically
.
This
report
represents
two
siblings
with
classical
signs
and
symptoms
of
PLS
.
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
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom
