Rare Diseases Symptoms Automatic Extraction
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Harlequin ichthyosis: a case study.
[harlequin ichthyosis]
The
most
severe
manifestation
of
congenital
ichthyosis
presents
itself
in
the
form
known
as
harlequin
ichthyosis
.
Harlequin
ichthyosis
is
characterized
by
a
profound
thickening
of
the
fetal
skin
.
Affected
infants
are
born
with
a
thick
"
horny
shell
"
of
dense
,
waxy
,
platelike
scales
with
deep
,
irregular
fissures
covering
the
body
.
Contraction
of
the
extremities
is
seen
,
along
with
deformities
of
the
ears
,
eyes
,
mouth
,
and
digits
.
This
"
armor
"
limits
movement
and
compromises
the
skin
's
barrier
defense
,
leaving
the
newborn
at
risk
for
metabolic
abnormalities
and
infection
.
A
case
study
of
our
unit
's
experience
is
provided
.
