Rare Diseases Symptoms Automatic Extraction
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A random Abstract
Our Project
Our Team
Care of the newborn with ichthyosis.
[harlequin ichthyosis]
Mendelian
disorders
of
cornification
(
ichthyosis
;
MeDOC
)
often
present
in
the
neonatal
period
with
little
warning
to
providers
or
parents
.
This
report
reviews
the
majority
of
ichthyoses
with
congenital
findings
.
The
neonatal
presentation
of
many
MeDOC
often
differs
from
the
later
phenotype
because
of
the
changes
in
the
skin
that
occur
with
transition
from
an
intrauterine
to
extrauterine
environment
.
While
differentiation
of
ichthyosis
subtypes
in
the
neonatal
period
is
difficult
,
there
are
certain
phenotypic
groups
within
which
these
neonates
fall
,
recognition
of
which
can
guide
initial
work
up
and
treatment
.
For
this
report
,
these
are
categorized
as
:
exuberant
vernix
;
collodion
baby
/
harlequin
ichthyosis
(
HI
)
;
ichthyosiform
erythroderma
;
blistering
;
and
normal
skin
/
xerosis
phenotypes
.
Diseases
Validation
Diseases presenting
"collodion baby"
symptom
harlequin ichthyosis
lamellar ichthyosis
This symptom has already been validated
