Rare Diseases Symptoms Automatic Extraction
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Development of a disease severity score for newborns with collodion membrane.
[lamellar ichthyosis]
Collodion
membrane
in
the
neonate
may
be
the
initial
presentation
of
a
number
of
different
conditions
.
There
is
a
lack
of
data
correlating
the
extent
of
clinical
involvement
to
the
underlying
disease
and
prognosis
.
We
sought
to
identify
features
predictive
of
the
final
outcome
and
complications
in
a
cohort
of
patients
with
collodion
membrane
,
using
a
disease
severity
score
.
This
was
a
retrospective
cohort
study
of
newborns
with
collodion
membrane
at
a
tertiary
care
institution
over
a
period
of
31
years
.
We
designed
and
applied
a
0
-
to
15
-
point
severity
score
and
correlated
the
results
with
the
final
diagnoses
and
complications
.
Data
on
demographics
,
membrane
shedding
,
and
treatment
were
collected
.
We
identified
29
cases
.
Congenital
ichthyosiform
erythroderma
and
lamellar
ichthyosis
were
the
most
common
final
diagnoses
with
7
of
29
cases
(
24
%
)
each
;
3
patients
were
given
the
diagnosis
of
a
syndromic
ichthyosis
.
The
classic
nonsyndromic
ichthyoses
had
higher
average
score
results
(
7
.
33
)
than
the
syndromic
ichthyoses
(
2
.
0
)
and
other
presentations
(
4
.
0
)
,
(
P
Â
=
.
0097
)
.
Patients
with
major
complications
had
higher
,
but
nonsignificant
,
average
severity
scores
(
P
Â
=
.
64
)
.
The
retrospective
design
and
small
number
of
patients
with
a
syndromic
ichthyosis
are
limitations
.
Prospective
studies
are
required
to
validate
the
proposed
disease
severity
score
.
Diseases
Validation
Diseases presenting
"ichthyosis"
symptom
child syndrome
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
harlequin ichthyosis
hirschsprung disease
junctional epidermolysis bullosa
kallmann syndrome
lamellar ichthyosis
This symptom has already been validated
