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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
"first case"
symptom
achondroplasia
adrenal incidentaloma
allergic bronchopulmonary aspergillosis
alpha-thalassemia
aniridia
aromatase deficiency
canavan disease
carcinoma of the gallbladder
child syndrome
cholangiocarcinoma
classical phenylketonuria
coats disease
cohen syndrome
congenital toxoplasmosis
cushing syndrome
cutaneous mastocytosis
dedifferentiated liposarcoma
dentin dysplasia
dracunculiasis
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
esophageal adenocarcinoma
esophageal carcinoma
fabry disease
familial mediterranean fever
focal myositis
gm1 gangliosidosis
harlequin ichthyosis
hodgkin lymphoma, classical
homocystinuria without methylmalonic aciduria
junctional epidermolysis bullosa
kabuki syndrome
krabbe disease
lamellar ichthyosis
legionellosis
liposarcoma
locked-in syndrome
malignant atrophic papulosis
monosomy 21
neonatal adrenoleukodystrophy
oculocutaneous albinism
omenn syndrome
papillon-lefèvre syndrome
pendred syndrome
pleomorphic liposarcoma
primary effusion lymphoma
primary hyperoxaluria type 1
proteus syndrome
pyomyositis
systemic capillary leak syndrome
thoracic outlet syndrome
von hippel-lindau disease
waldenström macroglobulinemia
well-differentiated liposarcoma
werner syndrome
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
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