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Defining keratin protein function in skin epithelia: epidermolysis bullosa simplex and its aftermath.
[epidermolysis bullosa simplex]
Epidermolysis
bullosa
simplex
(
EBS
)
is
a
rare
genetic
condition
typified
by
superficial
bullous
lesions
following
incident
frictional
trauma
to
the
skin
.
Most
cases
of
EBS
are
due
to
dominantly
acting
mutations
in
keratin
14
(
K
14
)
or
K
5
,
the
type
I
and
II
intermediate
filament
(
IF
)
proteins
that
copolymerize
to
form
a
pancytoplasmic
network
of
10
 
nm
filaments
in
basal
keratinocytes
of
epidermis
and
related
epithelia
.
Defects
in
K
5
-
K
14
filament
network
architecture
cause
basal
keratinocytes
to
become
fragile
,
and
account
for
their
rupture
upon
exposure
to
mechanical
trauma
.
The
discovery
of
the
etiology
and
pathophysiology
of
EBS
was
intimately
linked
to
the
quest
for
an
understanding
of
the
properties
and
function
of
keratin
filaments
in
skin
epithelia
.
Since
then
,
continued
cross-fertilization
between
basic
science
efforts
and
clinical
endeavors
has
highlighted
several
additional
functional
roles
for
keratin
proteins
in
the
skin
,
suggested
new
avenues
for
effective
therapies
for
keratin-based
diseases
,
and
expanded
our
understanding
of
the
remarkable
properties
of
the
skin
as
an
organ
system
.
Diseases
Validation
Diseases presenting
"basal keratinocytes"
symptom
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
harlequin ichthyosis
junctional epidermolysis bullosa
kindler syndrome
lamellar ichthyosis
severe combined immunodeficiency
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