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A random Abstract
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The genetics of skin fragility.
[kindler syndrome]
Genetic
skin
fragility
manifests
with
diminished
resistance
of
the
skin
and
mucous
membranes
to
external
mechanical
forces
and
with
skin
blistering
,
erosions
,
and
painful
wounds
as
clinical
features
.
Skin
fragility
disorders
,
collectively
called
epidermolysis
bullosa
,
are
caused
by
mutations
in
18
distinct
genes
that
encode
proteins
involved
in
epidermal
integrity
and
dermal-epidermal
adhesion
.
The
genetic
spectrum
,
along
with
environmental
and
genetic
modifiers
,
creates
a
large
number
of
clinical
phenotypes
,
spanning
from
minor
localized
lesions
to
severe
generalized
blistering
,
secondary
skin
cancer
,
or
early
demise
resulting
from
extensive
loss
of
the
epidermis
.
Laboratory
investigations
of
skin
fragility
have
greatly
augmented
our
understanding
of
genotype-phenotype
correlations
in
epidermolysis
bullosa
and
have
also
advanced
skin
biology
in
general
.
Current
translational
research
concentrates
on
the
development
of
biologically
valid
treatments
with
therapeutic
genes
,
cells
,
proteins
,
or
small
-molecule
compounds
in
preclinical
settings
or
human
pilot
trials
.
Diseases
Validation
Diseases presenting
"or early demise resulting from extensive loss of the epidermis"
symptom
kindler syndrome
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