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The multifaceted clinical presentations and manifestations of Erdheim-Chester disease: comprehensive review of the literature and of 10 new cases.
[erdheim-chester disease]
Erdheim-
Chester
disease
(
ECD
)
is
a
rare
inflammatory
disorder
characterised
by
organ
infiltration
by
non-
Langerhans
'
histiocytes
.
Although
rare
,
ECD
is
clearly
an
overlooked
diagnosis
.
No
data
specifically
addressing
the
most
frequent
presentations
of
ECD
at
the
time
of
onset
in
a
large
cohort
of
patients
are
currently
available
.
We
reviewed
all
the
published
cases
in
the
English
literature
of
histologically-confirmed
ECD
.
We
excluded
reports
in
which
data
regarding
onset
and
diagnosis
were
not
univocal
,
as
well
as
repeated
reports
of
the
same
case
(
s
)
.
We
also
included
in
the
analysis
10
new
unpublished
patients
from
our
cohort
.
We
analysed
the
disease
presentation
with
particular
regard
to
the
manifestations
that
induced
patients
to
seek
medical
attention
and
their
subsequent
evolution
.
In
the
cumulative
cohort
of
259
cases
,
ECD
predominantly
presented
with
skeletal
symptoms
,
diabetes
insipidus
,
neurological
and
constitutional
symptoms
.
Diabetes
insipidus
and
constitutional
symptoms
,
if
not
present
at
onset
,
seemed
to
only
seldom
develop
.
There
were
differences
in
ECD
presentation
and
course
among
different
age
groups
of
patients
.
Physicians
should
be
aware
of
the
extraordinarily
heterogeneous
clinical
presentations
and
manifestations
of
ECD
in
order
to
include
ECD
in
the
differential
diagnosis
of
several
conditions
.
Diseases
Validation
Diseases presenting
"large cohort"
symptom
adrenal incidentaloma
adrenomyeloneuropathy
cadasil
child syndrome
congenital diaphragmatic hernia
cushing syndrome
cystinuria
erdheim-chester disease
esophageal adenocarcinoma
esophageal carcinoma
esophageal squamous cell carcinoma
fabry disease
familial mediterranean fever
inclusion body myositis
junctional epidermolysis bullosa
kabuki syndrome
krabbe disease
oligodontia
pendred syndrome
phenylketonuria
thoracic outlet syndrome
waldenström macroglobulinemia
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