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Bilateral adult epibulbar xanthogranulomas suspicious for Erdheim-Chester disease.
[erdheim-chester disease]
The
aim
of
this
study
was
to
report
the
clinical
,
imaging
,
and
histopathological
findings
of
bilateral
,
conjunctival
adult-onset
xanthogranulomas
that
raised
the
prospect
of
a
mild
form
of
Erdheim-
Chester
disease
.
This
is
a
case
report
.
A
35
-
year
-old
white
male
complaining
of
ocular
irritation
,
presented
with
bilateral
,
nasal
and
temporal
,
yellow
,
elevated
conjunctival
lumps
first
noticed
1
.
5
years
back
,
which
were
not
associated
with
other
ocular
findings
.
The
lesions
were
firm
,
attached
to
the
underlying
episclera
,
and
measured
1
.
1
×
0
.
9
,
1
.
1
×
0
.
8
,
1
.
2
×
0
.
5
,
and
0
.
5
×
0
.
5
cm
in
the
temporal
and
nasal
right
and
left
eyes
,
respectively
.
Each
mass
was
fleshy
with
vascularity
at
the
peripheral
margin
.
Histopathologic
evaluation
after
excisional
biopsy
revealed
lipidized
xanthoma
cells
,
multiple
Touton
giant
cells
,
and
lymphocytes
.
Immunohistochemical
staining
was
positive
for
adipophilin
(
lipid
)
,
CD
68
,
CD
163
histiocytes
,
CD
3
T
cells
(
with
CD
8
cytotoxic
T
cells
>
CD
4
T
-
helper
cells
)
,
and
virtually
no
CD
2
0
B
cells
or
IgG
4
plasma
cells
.
The
patient
later
acquired
similar
xanthogranulomatous
subcutaneous
lesions
on
the
extremities
.
Positron
emission
tomography
scans
showed
sclerosis
in
the
medullary
cavities
of
the
tibia
and
the
radius
of
both
legs
and
arms
,
and
an
absence
of
retroperitoneal
lesions
.
A
normal
serum
immunoelectrophoresis
and
the
absence
of
a
BRAF
gene
mutation
were
demonstrated
.
Adult-onset
xanthogranuloma
can
present
as
a
solitary
conjunctival
mass
without
periocular
or
orbital
involvement
.
The
clinical
,
histopathologic
,
and
radiologic
findings
in
this
case
are
suggestive
of
Erdheim-
Chester
disease
without
displaying
any
life-threatening
lesions
to
date
.
Histopathologic
and
imaging
studies
can
help
in
obtaining
a
diagnosis
.
Ophthalmologists
should
be
aware
that
xanthogranulomatous
conditions
may
have
potential
systemic
implications
,
and
a
thorough
systemic
evaluation
is
recommended
for
lesions
that
initially
seemed
to
be
isolated
in
nature
.
Diseases
Validation
Diseases presenting
"left eyes"
symptom
erdheim-chester disease
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