Rare Diseases Symptoms Automatic Extraction
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A case of recurrent abdominal pain with fever and urticarial eruption.
[familial mediterranean fever]
Familial
Mediterranean
fever
(
FMF
)
is
an
autosomal
recessive
disease
characterized
by
recurrent
episodes
of
fever
and
serosal
,
synovial
,
or
cutaneous
inflammation
,
caused
by
a
dysfunction
of
pyrin
as
a
result
of
mutation
within
the
MEFV
gene
.
It
occurs
mainly
among
Mediterranean
and
Middle
Eastern
populations
,
including
Jews
,
Arabs
,
and
Turks
.
However
,
FMF
cases
have
been
reported
outside
the
Mediterranean
and
Middle
Eastern
countries
in
recent
years
.
Although
FMF
has
been
relatively
rare
in
Korea
until
now
,
proper
recognition
of
FMF
might
lead
to
more
frequent
diagnoses
of
FMF
.
We
experienced
an
interesting
case
,
a
31
-
year
-old
Korean
man
who
presented
with
recurrent
abdominal
pain
with
fever
and
urticarial
eruption
for
10
years
.
DNA
analysis
showed
complex
mutations
(
p
.
Leu
110
Pro
,
p
.
Glu
148
Gln
)
in
the
MEFV
gene
.
To
date
,
three
cases
have
been
reported
,
and
this
case
of
FMF
with
skin
conditions
is
the
first
case
in
Korea
.
Diseases
Validation
Diseases presenting
"fever"
symptom
22q11.2 deletion syndrome
acute rheumatic fever
alexander disease
allergic bronchopulmonary aspergillosis
canavan disease
carcinoma of the gallbladder
child syndrome
congenital toxoplasmosis
cushing syndrome
cystinuria
dracunculiasis
erdheim-chester disease
esophageal adenocarcinoma
esophageal carcinoma
familial mediterranean fever
focal myositis
hodgkin lymphoma, classical
lamellar ichthyosis
legionellosis
locked-in syndrome
malignant atrophic papulosis
neonatal adrenoleukodystrophy
neuralgic amyotrophy
oculocutaneous albinism
papillon-lefèvre syndrome
pyomyositis
pyruvate dehydrogenase deficiency
scrub typhus
severe combined immunodeficiency
sneddon syndrome
systemic capillary leak syndrome
triple a syndrome
typhoid
waldenström macroglobulinemia
wolf-hirschhorn syndrome
This symptom has already been validated