Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
[Erdheim-Chester disease: study of 12 cases].
[erdheim-chester disease]
Erdheim-
Chester
disease
(
EC
)
is
a
rare
form
of
non-
Langerhans
'
cell
histiocytosis
.
It
is
characterized
by
the
xanthomatous
infiltration
of
tissues
with
foamy
CD
68
+
/
CD
1
a-
histiocytes
.
We
report
a
series
of
12
patients
diagnosed
with
EC
.
We
reviewed
the
clinical
,
pathological
and
therapeutic
aspects
of
12
cases
diagnosed
with
EC
at
7
tertiary
teaching
hospitals
in
Spain
.
Patients
were
included
if
tissue
infiltration
by
histiocytes
CD
68
+
/
CD
1
a-
could
be
demonstrated
in
an
appropriate
clinical
setting
.
Twelve
patients
(
7
male
)
were
included
.
Median
follow-up
was
36
months
(
IQR
:
20
-
84
)
.
The
median
age
at
the
time
of
clinical
onset
and
pathological
diagnosis
was
49
(
IQR
:
28
-
61
)
and
56
years
(
IQR
:
37
-
62
)
,
respectively
.
In
6
cases
multiples
biopsies
were
performed
(
skin
,
muscle
,
testicular
)
previous
to
diagnosis
,
which
was
confirmed
in
3
cases
after
a
carefully
review
of
pathological
tissues
.
Neurological
involvement
was
independently
associated
with
mortality
(
P
<
.
05
)
.
Characteristic
long
bone
osteosclerosis
was
detected
in
9
patients
.
EC
is
a
multisystemic
and
heterogeneous
clinicopathological
condition
.
A
high
index
of
suspicion
and
fluent
communication
between
clinicians
and
pathologists
is
necessary
to
achieve
a
correct
diagnosis
.
