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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
"high level"
symptom
22q11.2 deletion syndrome
aniridia
cadasil
carcinoma of the gallbladder
cohen syndrome
congenital toxoplasmosis
cutaneous mastocytosis
cystinuria
dedifferentiated liposarcoma
dentinogenesis imperfecta
erdheim-chester disease
erythropoietic protoporphyria
esophageal carcinoma
esophageal squamous cell carcinoma
familial hypocalciuric hypercalcemia
familial mediterranean fever
hodgkin lymphoma, classical
inclusion body myositis
liposarcoma
lymphangioleiomyomatosis
omenn syndrome
oral submucous fibrosis
pyomyositis
scrub typhus
waldenström macroglobulinemia
well-differentiated liposarcoma
werner syndrome
x-linked adrenoleukodystrophy
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