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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
.
Diseases
Validation
Diseases presenting
"prenatal diagnosis"
symptom
22q11.2 deletion syndrome
achondroplasia
adrenomyeloneuropathy
alexander disease
alpha-thalassemia
aromatase deficiency
benign recurrent intrahepatic cholestasis
cadasil
canavan disease
classical phenylketonuria
cohen syndrome
congenital adrenal hyperplasia
congenital diaphragmatic hernia
congenital toxoplasmosis
cystinuria
dentinogenesis imperfecta
epidermolysis bullosa simplex
harlequin ichthyosis
holt-oram syndrome
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
junctional epidermolysis bullosa
kindler syndrome
krabbe disease
lamellar ichthyosis
megacystis-microcolon-intestinal hypoperistalsis syndrome
monosomy 21
neonatal adrenoleukodystrophy
oculocutaneous albinism
omenn syndrome
phenylketonuria
primary hyperoxaluria type 1
pyruvate dehydrogenase deficiency
severe combined immunodeficiency
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
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