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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
"early diagnosis"
symptom
achondroplasia
acute rheumatic fever
adrenal incidentaloma
adrenomyeloneuropathy
alexander disease
allergic bronchopulmonary aspergillosis
aromatase deficiency
carcinoma of the gallbladder
cholangiocarcinoma
classical phenylketonuria
coats disease
cohen syndrome
congenital adrenal hyperplasia
congenital diaphragmatic hernia
congenital toxoplasmosis
cowden syndrome
cushing syndrome
cutaneous mastocytosis
cystinuria
dentin dysplasia
dentinogenesis imperfecta
dracunculiasis
erdheim-chester disease
erythropoietic protoporphyria
esophageal carcinoma
esophageal squamous cell carcinoma
fabry disease
familial hypocalciuric hypercalcemia
familial mediterranean fever
gm1 gangliosidosis
hirschsprung disease
holt-oram syndrome
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
inclusion body myositis
kabuki syndrome
kallmann syndrome
kindler syndrome
krabbe disease
locked-in syndrome
monosomy 21
neuralgic amyotrophy
oculocutaneous albinism
oligodontia
omenn syndrome
oral submucous fibrosis
papillon-lefèvre syndrome
phenylketonuria
primary effusion lymphoma
primary hyperoxaluria type 1
proteus syndrome
pyomyositis
pyruvate dehydrogenase deficiency
scrub typhus
severe combined immunodeficiency
sneddon syndrome
systemic capillary leak syndrome
thoracic outlet syndrome
triple a syndrome
typhoid
von hippel-lindau disease
wiskott-aldrich syndrome
wolf-hirschhorn syndrome
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