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Harlequin ichthyosis model mouse reveals alveolar collapse and severe fetal skin barrier defects.
[harlequin ichthyosis]
Harlequin
ichthyosis
(
HI
)
,
which
is
the
most
severe
genodermatosis
,
is
caused
by
loss
-of-function
mutations
in
ABCA
12
,
a
member
of
the
ATP-binding
cassette
transporter
family
.
To
investigate
the
pathomechanism
of
HI
and
the
function
of
the
ABCA
12
protein
,
we
generated
ABCA
12
-
deficient
mice
(
Abca
12
(
-
/
-
)
)
by
targeting
Abca
12
.
Abca
12
(
-
/
-
)
mice
closely
reproduce
the
human
HI
phenotype
,
showing
marked
hyperkeratosis
with
eclabium
and
skin
fissure
.
Lamellar
granule
abnormalities
and
defective
ceramide
distribution
were
remarkable
in
the
epidermis
.
Skin
permeability
assay
of
Abca
12
(
-
/
-
)
fetuses
revealed
severe
skin
barrier
dysfunction
after
the
initiation
of
keratinization
.
Surprisingly
,
the
Abca
12
(
-
/
-
)
mice
also
demonstrated
lung
alveolar
collapse
immediately
after
birth
.
Lamellar
bodies
in
alveolar
type
II
cells
of
the
Abca
12
(
-
/
-
)
mice
lacked
normal
lamellar
structures
.
The
level
of
surfactant
protein
B
,
an
essential
component
of
alveolar
surfactant
,
was
reduced
in
the
Abca
12
(
-
/
-
)
mice
.
Fetal
therapeutic
trials
with
systemic
administration
of
retinoid
or
dexamethasone
,
which
are
effective
for
HI
and
respiratory
distress
,
respectively
,
to
the
pregnant
mother
mice
neither
improved
the
skin
phenotype
nor
extended
the
survival
period
.
Our
HI
model
mice
reproduce
the
human
HI
skin
phenotype
soon
after
the
initiation
of
fetal
skin
keratinization
and
provide
evidence
that
ABCA
12
plays
pivotal
roles
in
lung
and
skin
barrier
functions
.
Diseases
Validation
Diseases presenting
"alveolar surfactant"
symptom
harlequin ichthyosis
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