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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
"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
