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Pathogenesis of the cutaneous phenotype in inherited disorders of cholesterol metabolism: Therapeutic implications for topical treatment of these disorders.
[child syndrome]
Molecular
geneticists
tend
to
conceptualize
disease
pathogenesis
from
the
mutated
gene
outward
,
an
approach
that
does
not
take
into
account
the
impact
of
barrier
requirements
in
determining
disease
phenotype
.
An
'
outside-
to
-inside
'
perspective
has
provided
quite
different
explanations
for
the
ichthyoses
,
including
several
of
the
disorders
of
distal
cholesterol
metabolism
.
Elucidation
of
responsible
pathogenic
mechanisms
also
is
pointing
to
appropriate
,
pathogenesis
(
pathway
)
-
based
therapeutic
strategies
.
In
the
case
of
the
lipid
metabolic
disorders
,
it
takes
full
advantage
of
new
molecular
,
genetic
and
cellular
pathogenesis
information
to
correct
or
bypass
the
metabolic
abnormality
.
This
approach
fully
exploits
the
unique
accessibility
of
the
skin
to
a
topical
approach
.
Moreover
,
since
it
will
utilize
topical
lipids
and
lipid-soluble
,
and
often
generic
,
lipid-soluble
drugs
,
these
treatments
should
be
readily
transported
across
the
stratum
corneum
.
If
successful
,
this
approach
could
initiate
an
entirely
new
departure
for
the
therapy
of
the
ichthyoses
.
Finally
,
because
these
agents
are
relatively
safe
and
inexpensive
,
this
form
of
treatment
has
the
potential
to
be
widely
-deployed
,
even
in
the
developing
world
.
Diseases
Validation
Diseases presenting
"including several of the disorders of distal cholesterol metabolism"
symptom
child syndrome
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