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Harlequin ichthyosis--difficulties in prenatal diagnosis.
[harlequin ichthyosis]
Ichthyoses
belong
to
the
group
of
genodermatoses
,
characterized
by
hyperkeratosis
and
desquamation
of
the
epidermis
.
Clinical
manifestation
is
heterogeneous
and
depends
on
the
type
of
the
disease
.
Harlequin
foetus
is
the
most
severe
form
of
congenital
ichtyosis
,
inherited
as
an
autosomal
recessive
trait
.
The
disfunction
of
the
epidermis
begins
prenatally
.
Neonates
are
often
born
prematurely
,
in
severe
condition
.
At
present
better
care
and
treatment
prolong
the
length
and
quality
of
children
's
life
.
We
report
a
case
of
harlequin
ichthyosis
.
Parents
were
healthy
and
there
was
no
history
of
ichthyosis
or
other
congenital
anomalies
in
the
family
.
Sonography
at
the
26
th
week
of
gestation
revealed
anomalies
of
the
fetal
face
;
however
,
the
diagnosis
of
harlequin
ichthyosis
was
not
established
prenatally
.
The
male
child
was
born
alive
at
the
37
th
week
of
the
third
pregnancy
,
with
birth
weight
of
2900
g
.
Typical
features
of
harlequin
ichthyosis
were
present
at
birth
.
Intensive
neonatological
care
was
necessary
.
The
child
survived
and
at
the
time
of
the
report
was
6
months
old
and
in
good
condition
.
Diseases
Validation
Diseases presenting
"born alive at the 37th week of the third pregnancy"
symptom
harlequin ichthyosis
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