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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
.
Diseases
Validation
Diseases presenting
"oral cavity"
symptom
cowden syndrome
dedifferentiated liposarcoma
dentinogenesis imperfecta
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
junctional epidermolysis bullosa
kabuki syndrome
kindler syndrome
lamellar ichthyosis
oral submucous fibrosis
papillon-lefèvre syndrome
pleomorphic liposarcoma
proteus syndrome
sneddon syndrome
well-differentiated liposarcoma
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