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
"abdominal pain"
symptom
22q11.2 deletion syndrome
adrenal incidentaloma
alpha-thalassemia
benign recurrent intrahepatic cholestasis
carcinoma of the gallbladder
child syndrome
cholangiocarcinoma
congenital diaphragmatic hernia
cushing syndrome
cutaneous mastocytosis
cystinuria
dedifferentiated liposarcoma
erdheim-chester disease
erythropoietic protoporphyria
fabry disease
familial hypocalciuric hypercalcemia
familial mediterranean fever
focal myositis
liposarcoma
lymphangioleiomyomatosis
malignant atrophic papulosis
pleomorphic liposarcoma
primary effusion lymphoma
primary hyperoxaluria type 1
proteus syndrome
scrub typhus
sneddon syndrome
systemic capillary leak syndrome
typhoid
von hippel-lindau disease
well-differentiated liposarcoma
This symptom has already been validated