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A random Abstract
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Pathogenesis-based therapies in ichthyoses.
[child syndrome]
During
the
past
20
years
,
tremendous
progress
has
been
made
in
our
understanding
of
the
molecular
basis
of
many
genetic
skin
conditions
.
The
translation
of
these
laboratory
findings
into
effective
therapies
for
affected
individuals
has
been
slow
,
however
,
in
large
part
due
to
the
risk
of
carcinogenesis
from
random
viral
genomic
integration
and
the
lack
of
efficacy
of
topically
applied
genetic
material
and
most
proteins
.
As
intervention
at
the
gene
level
still
appears
remote
for
most
genetic
disorders
,
increased
knowledge
about
the
cellular
and
biochemical
pathogenesis
of
disease
allows
specific
targeting
of
pathways
with
existing
and
/
or
novel
drugs
and
molecules
.
In
contrast
to
the
requirement
for
personalization
of
most
gene
-based
approaches
,
pathogenesis-based
therapy
is
pathway
specific
,
and
in
theory
,
it
should
have
broader
applicability
.
In
this
chapter
,
we
provide
an
overview
of
the
pathoetiology
of
the
various
types
of
ichthyoses
and
demonstrate
how
a
pathogenesis-based
approach
can
potentially
lead
to
innovative
treatments
for
these
conditions
.
Notably
,
this
strategy
has
been
successfully
validated
for
the
treatment
of
the
rare
X-
linked
dominant
condition
,
CHILD
syndrome
,
in
which
topical
applications
of
cholesterol
and
lovastatin
together
to
affected
skin
resulted
in
marked
improvement
of
the
skin
phenotype
.
Diseases
Validation
Diseases presenting
"large part"
symptom
child syndrome
congenital toxoplasmosis
werner syndrome
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