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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
"skin diseases"
symptom
cutaneous mastocytosis
dentinogenesis imperfecta
dracunculiasis
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
erythropoietic protoporphyria
fabry disease
harlequin ichthyosis
inclusion body myositis
junctional epidermolysis bullosa
kindler syndrome
lamellar ichthyosis
oculocutaneous albinism
papillon-lefèvre syndrome
sneddon syndrome
systemic capillary leak syndrome
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