Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
[Eyelids with yellow granulomas and cough - periocular xanthogranuloma associated with adult-onset asthma. A case study and an overview of clinical forms of juvenile xanthogranuloma and its therapy].
[erdheim-chester disease]
Histiocytic
diseases
caused
by
proliferation
and
accumulation
of
phagocytosing
macrophages
(
foamy
macrophages
)
have
many
clinical
forms
.
These
are
classified
under
"
juvenile
xanthogranuloma
"
within
the
WHO
classification
of
blood
disorders
.
Localized
forms
with
benign
course
include
normolipaemic
xanthomatosis
,
xanthogranuloma
and
necrobiotic
xanthogranuloma
.
Disseminated
forms
in
children
take
a
form
of
so
called
"
disseminated
juvenile
xanthogranuloma
"
or
Erdheim-
Chester
disease
in
adults
.
We
describe
a
case
of
a
patient
who
,
at
53
years
of
age
,
first
noticed
yellow
granulomas
on
her
eyelids
.
The
disease
progressed
gradually
and
,
at
59
,
affects
the
eyelids
as
well
as
their
closest
surroundings
.
According
to
MR
and
PET-
CT
,
the
disease
gradually
infiltrated
the
inside
of
the
orbit
,
orbital
fat
as
well
as
extraocular
muscles
and
started
to
cause
exoftalmus
of
one
of
the
eyes
.
Propagation
of
the
xanthogranuloma
into
the
orbit
and
infiltration
of
extraocular
muscles
might
impair
eye
function
.
Over
the
last
year
,
the
patient
complained
of
cough
.
Pulmonary
function
evaluation
confirmed
recent
asthma
bronchiale
.
These
findings
correspond
to
periocular
xanthogranuloma
associated
with
adult-onset
asthma
.
No
other
abnormities
have
been
shown
in
this
patient
.
Exoftalmus
was
observed
in
2011
after
6
years
of
monitoring
with
very
slow
progression
of
eyelid
and
extraocular
infiltration
.
Therefore
,
prednisone
was
initiated
in
2011
,
leading
to
cessation
of
exoftalmus
.
It
is
not
known
at
present
whether
this
is
a
permanent
improvement
with
a
suppression
of
histiocytary
proliferation
or
whether
this
was
a
temporary
improvement
due
to
suppression
of
inflammatory
changes
in
the
xanthogranuloma
with
no
effect
on
histiocytary
proliferation
.
Progression
during
therapy
with
corticosteroids
would
warrant
cytostatic
treatment
.
The
discussion
section
provides
an
overview
of
diseases
caused
by
foamy
histiocytes
with
illustrations
and
an
overview
of
experiences
with
their
treatment
.
Diseases
Validation
Diseases presenting
"cough"
symptom
acute rheumatic fever
allergic bronchopulmonary aspergillosis
benign recurrent intrahepatic cholestasis
cushing syndrome
cutaneous mastocytosis
dracunculiasis
erdheim-chester disease
esophageal adenocarcinoma
fabry disease
holt-oram syndrome
liposarcoma
lymphangioleiomyomatosis
pleomorphic liposarcoma
scrub typhus
severe combined immunodeficiency
systemic capillary leak syndrome
triple a syndrome
well-differentiated liposarcoma
This symptom has already been validated