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[Erdheim-Chester disease].
[erdheim-chester disease]
Erdheim-
Chester
disease
is
an
orphan
condition
which
involves
the
ongoing
proliferation
,
migration
and
infiltration
of
the
typical
CD
68
(
+
)
,
CD
1
a
(
-
)
histiocytes
to
various
target
foci
.
Consequently
,
both
the
infiltrating
and
fibrosing
elements
of
the
disease
promote
end
organ
damage
and
ultimately
,
failure
.
Presentation
of
the
Erdheim-
Chester
disease
typically
involves
longstanding
diabetes
insipidus
in
conjunction
with
intensifying
bone
pain
that
classically
affects
the
femurs
and
tibiae
.
Alternatively
,
the
disease
may
present
with
neurological
deterioration
of
cerebellar
nature
.
Thus
,
a
high
index
of
clinical
suspicion
is
required
when
facing
a
patient
with
the
combination
of
longstanding
diabetes
insipidus
in
conjunction
with
bone
pain
or
cerebellar
dysfunction
.
Typical
symmetric
,
bilateral
increased
tracer
uptake
on
a
99
mTc
bone
scintigraphy
invoLving
the
femurs
and
tibiae
,
is
strongly
suggestive
of
the
Erdheim-
Chester
disease
.
interferon
alpha
is
considered
as
the
first
line
of
treatment
.
Nevertheless
,
recent
accumulated
data
suggests
that
this
disease
heavily
relies
on
the
Ras
/
Raf
/
MEK
/
ERK
signal
transduction
pathway
as
inhibition
of
the
V
600
E
mutant
BRAF
by
the
small
molecule
vemurafenib
among
patients
who
are
carriers
of
this
mutation
,
yielded
dramatic
clinical
responses
.
Diseases
Validation
Diseases presenting
"cerebellar dysfunction"
symptom
erdheim-chester disease
krabbe disease
locked-in syndrome
triple a syndrome
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