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[Malignant keratoma: Harlequin fetus].
[harlequin ichthyosis]
Harlequin
fetus
,
with
an
incidence
of
about
1
in
300
.
000
births
,
is
an
extremely
severe
form
of
congenital
ichtyosis
.
We
report
a
case
of
malignant
keratoma
:
a
male
infant
was
born
at
40
weeks
'
gestational
age
.
The
parents
were
first
cousins
.
This
infant
was
covered
with
massive
thick
,
waxy
,
plate-like
scales
and
deep
fissures
.
There
was
striking
facial
distortion
including
severe
eclabium
and
ectropion
.
The
baby
was
transferred
to
the
Neonatal
Intensive
Care
Unit
but
he
died
at
2
days
of
age
.
There
is
limited
information
regarding
the
course
and
prognosis
of
neonates
affected
with
Harlequin
ichthyosis
because
most
affected
patients
die
within
the
first
days
or
weeks
of
life
.
However
,
it
is
now
evident
that
these
infants
,
may
have
extended
survival
potential
with
intensive
supportive
measures
as
well
as
the
addition
of
retinoids
.
Prenatal
diagnosis
for
malignant
keratoma
had
been
performed
by
fetal
skin
biopsy
and
electron
microscopic
observation
at
19
-
23
weeks
estimated
gestational
age
.
In
2005
,
ABCA
12
was
identified
as
the
causative
gene
for
this
disease
.
It
has
now
become
possible
to
make
DNA-based
prenatal
diagnosis
for
Harlequin
ichthyosis
by
chorionic
villus
or
amniotic
fluid
sampling
procedures
in
the
earlier
stages
of
pregnancy
with
a
lower
risk
to
fetal
health
and
with
a
reduced
burden
on
the
mothers
.