Rare Diseases Symptoms Automatic Extraction
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Erdheim-Chester disease.
[erdheim-chester disease]
Erdheim-
Chester
disease
(
ECD
)
is
a
rare
form
of
non-
Langerhans
'
cell
histiocytosis
.
Diagnosis
of
ECD
is
based
on
the
identification
in
tissue
biopsy
of
histiocytes
,
which
are
typically
foamy
and
immunostain
for
CD
68
+
CD
1
a-
.
Central
nervous
system
involvement
is
a
major
prognostic
factor
in
ECD
.
Interferon
alpha
may
be
the
best
first
-line
therapy
and
significantly
improves
survival
of
ECD
.
The
BRAFV
600
E
mutation
is
found
in
more
than
50
%
of
cases
.
Vemurafenib
has
been
used
for
a
small
number
of
patients
harbouring
this
mutation
;
inhibition
of
BRAF
activation
by
vemurafenib
was
highly
beneficial
in
these
cases
of
severe
multisystemic
and
refractory
ECD
.
