Rare Diseases Symptoms Automatic Extraction
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[A man in his forties with swelling in both orbits].
[erdheim-chester disease]
Erdheim-
Chester
disease
.
A
multi-disiplinary
challenge
.
The
histiocytoses
are
a
diverse
,
but
rare
group
of
disorders
with
symptoms
affecting
many
organs
,
varying
from
self-limiting
,
localised
lesions
to
disseminated
multi-organ
disease
.
The
diagnostic
challenges
are
illustrated
and
discussed
in
the
following
case
.
A
man
in
his
forties
was
admitted
to
hospital
due
to
pain
in
his
right
eye
and
visual
disturbances
.
MRI
imaging
detected
a
mass
in
his
right
orbit
and
a
minor
mass
in
his
left
orbit
.
The
histological
results
of
the
mass
in
his
right
orbit
revealed
an
inflammatory
process
with
lymphocytes
and
macrophages
and
no
sign
of
vasculitis
,
infection
or
malignancy
.
The
diagnosis
pseudotumor
orbita
was
made
and
treatment
with
corticosteroids
was
initiated
.
He
did
not
respond
to
corticosteroids
or
radiotherapy
and
increasing
symptoms
necessitated
rehospitalisation
.
Further
tests
disclosed
a
multisystem
disease
which
affected
the
aorta
,
skeleton
,
lung
,
heart
and
kidney
.
The
biopsy
was
reconsidered
and
the
disease
was
classified
as
a
histiocytosis
with
CD
68
positive
and
CD
1
a
negative
cells
.
The
diagnosis
Erdheim-
Chester
was
given
,
about
14
months
after
the
initial
hospitalisation
.
Treatment
with
interferon
α
was
started
.
Diseases
Validation
Diseases presenting
"pain"
symptom
achondroplasia
acute rheumatic fever
adrenal incidentaloma
adrenomyeloneuropathy
aniridia
aromatase deficiency
carcinoma of the gallbladder
cholangiocarcinoma
coats disease
congenital diaphragmatic hernia
congenital toxoplasmosis
cushing syndrome
cutaneous mastocytosis
cystinuria
dedifferentiated liposarcoma
dentin dysplasia
dracunculiasis
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
erdheim-chester disease
erythropoietic protoporphyria
esophageal adenocarcinoma
esophageal carcinoma
esophageal squamous cell carcinoma
fabry disease
familial mediterranean fever
focal myositis
hirschsprung disease
hodgkin lymphoma, classical
holt-oram syndrome
junctional epidermolysis bullosa
kabuki syndrome
kindler syndrome
lamellar ichthyosis
liposarcoma
locked-in syndrome
lymphangioleiomyomatosis
malignant atrophic papulosis
neuralgic amyotrophy
oligodontia
oral submucous fibrosis
papillon-lefèvre syndrome
phenylketonuria
pleomorphic liposarcoma
primary hyperoxaluria type 1
proteus syndrome
pyomyositis
scrub typhus
sneddon syndrome
systemic capillary leak syndrome
thoracic outlet syndrome
trochlear dysplasia
typhoid
von hippel-lindau disease
waldenström macroglobulinemia
well-differentiated liposarcoma
wolf-hirschhorn syndrome
This symptom has already been validated