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Interleukin-1 alpha blockade prevents hyperkeratosis in an in vitro model of lamellar ichthyosis.
[lamellar ichthyosis]
The
autosomal
recessive
congenital
ichthyoses
are
a
family
of
related
diseases
,
causing
a
severe
defect
in
the
barrier
function
of
the
epidermis
.
Neonates
are
usually
born
as
collodion
babies
,
but
later
form
scales
characteristic
of
the
disease
,
due
to
a
combination
of
thickening
of
the
cornified
layer
and
an
increase
in
the
production
of
non-polar
lipids
.
Current
treatments
of
choice
are
exfoliative
creams
and
moisturizing
agents
and
the
use
of
oral
retinoids
.
The
skin
condition
and
treatment
impact
significantly
on
quality
of
life
and
,
with
oral
retinoids
,
there
are
potential
complications
associated
with
long
-term
use
.
A
greater
understanding
of
the
mechanisms
that
result
in
scaling
should
lead
to
better
directed
therapies
,
not
only
for
the
inherited
ichthyoses
,
but
also
other
hyperkeratotic
disorders
.
Using
siRNA
knockdown
of
the
principle
gene
mutated
in
lamellar
ichthyosis
(
LI
)
,
transglutaminase-
1
,
in
rat
keratinocytes
,
we
created
an
in
vitro
organotypic
culture
model
that
closely
mimics
the
disease
.
Interleukin-
1
alpha
(
IL
1
A
)
expression
was
increased
and
there
was
a
lack
of
loricrin
cross-linking
.
All
LI
patients
tested
had
an
increased
IL
1
A
and
treatment
of
wild-
type
organotypic
cultures
with
IL
1
A
was
sufficient
to
induce
hyperkeratosis
.
Treatment
of
disease
mimic
organotypic
cultures
with
IL
-
1
receptor
antagonist
led
to
a
dose-dependent
decrease
in
hyperkeratosis
without
a
reduction
in
non-polar
lipids
in
the
cornified
layer
,
which
has
the
potential
to
reduce
scaling
without
the
requirement
to
constantly
apply
emollients
.
Diseases
Validation
Diseases presenting
"severe defect in the barrier function of the epidermis"
symptom
lamellar ichthyosis
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