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Progress towards genetic and pharmacological therapies for keratin genodermatoses: current perspective and future promise.
[epidermolysis bullosa simplex]
Hereditary
keratin
disorders
of
the
skin
and
its
appendages
comprise
a
large
group
of
clinically
heterogeneous
disfiguring
blistering
and
ichthyotic
diseases
,
primarily
characterized
by
the
loss
of
tissue
integrity
,
blistering
and
hyperkeratosis
in
severely
affected
tissues
.
Pathogenic
mutations
in
keratins
cause
these
afflictions
.
Typically
,
these
mutations
in
concert
with
characteristic
features
have
formed
the
basis
for
improved
disease
diagnosis
,
prognosis
and
most
recently
therapy
development
.
Examples
include
epidermolysis
bullosa
simplex
,
keratinopathic
ichthyosis
,
pachyonychia
congenita
and
several
other
tissue-
specific
hereditary
keratinopathies
.
Understanding
the
molecular
and
genetic
events
underlying
skin
dysfunction
has
initiated
alternative
treatment
approaches
that
may
provide
novel
therapeutic
opportunities
for
affected
patients
.
Animal
and
in
vitro
disease
modelling
studies
have
shed
more
light
on
molecular
pathogenesis
,
further
defining
the
role
of
keratins
in
disease
processes
and
promoting
the
translational
development
of
new
gene
and
pharmacological
therapeutic
strategies
.
Given
that
the
molecular
basis
for
these
monogenic
disorders
is
well
established
,
gene
therapy
and
drug
discovery
targeting
pharmacological
compounds
with
the
ability
to
reinforce
the
compromised
cytoskeleton
may
lead
to
promising
new
therapeutic
strategies
for
treating
hereditary
keratinopathies
.
In
this
review
,
we
will
summarize
and
discuss
recent
advances
in
the
preclinical
and
clinical
modelling
and
development
of
gene
,
natural
product
,
pharmacological
and
protein-based
therapies
for
these
disorders
,
highlighting
the
feasibility
of
new
approaches
for
translational
clinical
therapy
.
Diseases
Validation
Diseases presenting
"large group"
symptom
cadasil
epidermolysis bullosa simplex
harlequin ichthyosis
homocystinuria without methylmalonic aciduria
inclusion body myositis
lamellar ichthyosis
neuralgic amyotrophy
oligodontia
proteus syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
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