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Erdheim-Chester disease.
[erdheim-chester disease]
Erdheim-
Chester
disease
(
ECD
)
is
a
rare
,
non-
Langerhans
form
of
histiocytosis
first
described
in
1930
with
a
wide
range
of
manifestations
.
The
number
of
new
cases
has
dramatically
increased
over
the
past
10
years
because
of
the
better
recognition
of
this
condition
.
The
natural
evolution
is
variable
,
but
the
spontaneous
prognosis
is
severe
.
In
this
review
,
we
describe
the
relevant
clinical
,
radiological
,
prognostic
,
and
therapeutic
features
of
this
orphan
disease
.
Compelling
evidence
demonstrates
the
efficacy
of
treatment
by
interferon
alpha
(
IFN
α
)
which
has
been
reported
to
be
a
major
independent
predictor
of
survival
among
ECD
patients
.
Alternative
treatments
remain
to
be
defined
.
Recent
studies
have
highlighted
the
central
nervous
system
involvement
as
an
independent
predictor
of
death
.
Pathophysiology
is
better
understood
with
a
complex
network
of
cytokines
and
chemokines
and
a
systemic
immune
Th-
1
-
oriented
perturbation
.
ECD
,
although
a
rare
and
orphan
disease
,
has
been
overlooked
and
numerous
new
cases
are
currently
diagnosed
because
of
general
better
knowledge
of
this
histiocytosis
.
First
-line
treatment
is
IFN
α
.
We
have
recently
described
a
unique
cytokine
signature
that
may
provide
further
clues
to
understand
the
pathogenesis
of
ECD
,
as
well
as
provide
new
tools
for
diagnosis
and
targeted
therapy
.
Diseases
Validation
Diseases presenting
"wide range"
symptom
22q11.2 deletion syndrome
acute rheumatic fever
adrenomyeloneuropathy
alexander disease
allergic bronchopulmonary aspergillosis
alpha-thalassemia
aromatase deficiency
benign recurrent intrahepatic cholestasis
cadasil
carcinoma of the gallbladder
congenital toxoplasmosis
cowden syndrome
cystinuria
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
erdheim-chester disease
fabry disease
gm1 gangliosidosis
harlequin ichthyosis
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
legionellosis
neonatal adrenoleukodystrophy
oral submucous fibrosis
pendred syndrome
phenylketonuria
pleomorphic liposarcoma
primary effusion lymphoma
primary hyperoxaluria type 1
proteus syndrome
pyruvate dehydrogenase deficiency
scrub typhus
systemic capillary leak syndrome
thoracic outlet syndrome
triple a syndrome
trochlear dysplasia
well-differentiated liposarcoma
werner syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
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