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Erdheim-Chester Disease: a comprehensive review of the literature.
[erdheim-chester disease]
Erdheim-
Chester
Disease
(
ECD
)
is
a
rare
form
of
non
Langerhans
'
cell
histiocytosis
.
Individuals
affected
by
this
disease
are
typically
adults
between
their
5
th
and
7
th
decades
of
life
.
Males
and
females
are
almost
equally
affected
.
The
multi
systemic
form
of
ECD
is
associated
with
significant
morbidity
,
which
may
arise
due
to
histiocytic
infiltration
of
critical
organ
systems
.
Among
the
more
common
sites
of
involvement
are
the
skeleton
,
central
nervous
system
,
cardiovascular
system
,
lungs
,
kidneys
(
retroperitoneum
)
and
skin
.
The
most
common
presenting
symptom
of
ECD
is
bone
pain
.
The
etiology
of
ECD
is
unknown
yet
thought
to
be
associated
with
an
intense
TH
1
immune
response
.
It
may
also
be
associated
with
the
V
600
E
BRAF
mutation
,
as
described
in
as
many
as
half
of
the
patients
in
recent
studies
.
Bilateral
symmetric
increased
tracer
uptake
on
99
mTc
bone
scintigraphy
affecting
the
periarticular
regions
of
the
long
bones
is
highly
suggestive
of
ECD
.
However
,
definite
diagnosis
of
ECD
is
established
only
once
CD
68
(
+
)
,
CD
1
a
(
-
)
histiocytes
are
identified
within
a
biopsy
specimen
.
At
present
,
this
obscure
ailment
embodies
numerous
challenges
to
medical
science
.
Given
its
rarity
,
it
is
diagnostically
elusive
and
requires
a
high
level
of
clinical
suspicion
.
Therapeutically
,
it
is
of
limited
alternatives
.
Currently
,
interferon-α
is
the
most
extensively
studied
agent
in
the
treatment
of
ECD
and
serves
as
the
first
line
of
treatment
.
Treatment
with
other
agents
is
based
on
anecdotal
case
reports
and
on
the
basis
of
biological
rationale
.
Nevertheless
,
cladribine
(
2
CDA
)
,
anakinra
and
vemurafenib
are
currently
advocated
as
promising
second
line
treatments
for
patients
whose
response
to
interferon-α
is
unsatisfactory
.
Overall
,
the
5
year
survival
of
ECD
is
68
%
.
Herein
,
the
authors
mustered
and
brought
about
a
panoramic
consolidation
of
all
the
relevant
facts
regarding
ECD
.
This
work
highlights
the
different
clinical
,
radiological
and
pathological
manifestations
associated
with
ECD
,
the
differential
diagnoses
,
the
various
treatment
options
and
the
acknowledged
science
explaining
the
disease
.
Diseases
Validation
Diseases presenting
"which may arise due to histiocytic infiltration of critical organ systems"
symptom
erdheim-chester disease
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