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Erdheim-Chester disease with an 18F-fluorodeoxyglucose-avid breast mass and BRAF V600E mutation.
[erdheim-chester disease]
Erdheim-
Chester
disease
(
ECD
)
is
a
non-
Langerhans
cell
histiocytosis
.
Herein
we
report
a
case
of
a
49
-
year
-old
woman
who
developed
bilateral
knee
pain
.
Imaging
procedures
revealed
multiple
long
bone
lesions
and
a
well-defined
18
F-
fluorodeoxyglucose-avid
mass
in
the
left
breast
.
The
breast
mass
was
resected
,
and
an
open
biopsy
was
performed
on
the
right
femoral
lesion
.
Both
specimens
revealed
involvement
by
histiocytic
infiltrates
with
features
suggestive
of
ECD
.
The
BRAF
V
600
E
mutation
was
detected
by
DNA
sequencing
and
immunohistochemistry
.
Diseases
Validation
Diseases presenting
"bone lesions"
symptom
erdheim-chester disease
familial hypocalciuric hypercalcemia
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