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Cytomorphology of Erdheim-Chester disease presenting as a retroperitoneal soft tissue lesion.
[erdheim-chester disease]
Erdheim-
Chester
disease
(
ECD
)
is
a
rare
,
multisystem
disorder
of
macrophages
.
Patients
manifest
with
histiocytic
infiltrates
that
lead
to
xanthogranulomatous
lesions
in
multiple
organ
systems
.
The
cytologic
features
of
this
disorder
are
not
well
characterized
.
As
a
result
,
the
cytologic
diagnosis
of
ECD
can
be
very
challenging
.
The
aim
of
this
report
is
to
describe
the
cytomorphology
of
ECD
in
a
patient
presenting
with
a
retroperitoneal
soft
tissue
lesion
.
A
54
-
year
-old
woman
with
proptosis
and
diabetes
insipidus
was
found
on
imaging
studies
to
have
multiple
intracranial
lesions
,
sclerosis
of
both
femurs
and
a
retroperitoneal
soft
tissue
mass
.
Fine
needle
aspiration
(
FNA
)
and
a
concomitant
core
biopsy
of
this
abnormal
retroperitoneal
soft
tissue
revealed
foamy
,
epithelioid
and
multinucleated
histiocytes
associated
with
fibrosis
.
The
histiocytes
were
immunoreactive
for
CD
68
,
CD
163
,
Factor
XIIIa
and
fascin
,
and
negative
for
S
100
,
confirming
the
diagnosis
of
ECD
.
ECD
requires
a
morphologic
diagnosis
that
fits
with
the
appropriate
clinical
context
.
This
case
describes
the
cytomorphologic
features
of
ECD
and
highlights
the
role
of
cytology
in
helping
reach
a
diagnosis
of
this
rare
disorder
.
