Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Association of both Langerhans cell histiocytosis and Erdheim-Chester disease linked to the BRAFV600E mutation.
[erdheim-chester disease]
Histiocytoses
are
a
group
of
heterogeneous
diseases
that
mostly
comprise
Langerhans
cell
histiocytosis
(
LCH
)
and
non-
LCH
.
The
association
of
LCH
with
non-
LCH
is
exceptional
.
We
report
23
patients
with
biopsy-proven
LCH
associated
with
Erdheim-
Chester
disease
(
ECD
)
(
mixed
histiocytosis
)
and
discuss
the
significance
of
this
association
.
We
compare
the
clinical
phenotypes
of
these
patients
with
those
of
56
patients
with
isolated
LCH
and
53
patients
with
isolated
ECD
.
The
average
age
at
diagnosis
was
43
years
.
ECD
followed
(
n
=
12
)
or
was
diagnosed
simultaneously
with
(
n
=
11
)
but
never
preceded
LCH
.
Although
heterogeneous
,
the
phenotype
of
patients
with
mixed
histiocytosis
was
closer
to
that
of
isolated
ECD
than
to
that
of
isolated
LCH
(
principal
component
analysis
)
.
LCH
and
ECD
improved
in
response
to
interferon
alpha-
2
a
treatment
in
only
50
%
of
patients
(
8
of
16
)
.
We
found
the
BRAF
(
V
600
E
)
mutation
in
11
(
69
%
)
of
16
LCH
lesions
and
in
9
(
82
%
)
of
11
ECD
lesions
.
Eight
patients
had
mutations
in
both
ECD
and
LCH
biopsies
.
Our
findings
indicate
that
the
association
of
LCH
and
ECD
is
not
fortuitous
and
suggest
a
link
between
these
diseases
involving
the
BRAF
(
V
600
E
)
mutation
.