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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unpublished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
.