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Induction of phenotype modifying cytokines by FERMT1 mutations.
[kindler syndrome]
Kindler
syndrome
(
KS
)
is
a
progressive
skin
disorder
caused
by
FERMT
1
mutations
.
Early
in
life
,
KS
manifests
as
a
mechanobullous
disease
reflecting
diminished
cell
adhesion
,
but
the
mechanisms
of
its
later
phenotypic
features
,
progressive
poikiloderma
,
and
mucocutaneous
fibrosis
,
remain
elusive
.
The
FERMT
1
gene
product
and
KS
protein
,
kindlin-
1
,
is
an
epithelial-
specific
phosphoprotein
involved
in
integrin
beta
-
1
activation
,
without
an
obvious
link
to
dermal
connective
tissue
.
Here
we
show
how
lack
of
intracellular
kindlin-
1
in
epidermal
keratinocytes
leads
to
profound
changes
in
another
skin
compartment
,
the
dermis
.
Kindlin-
1
-
deficient
keratinocytes
respond
to
cell
stress
by
upregulating
the
expression
of
cytokines
such
as
IL
-
20
,
IL
-
24
,
TGF-β
2
,
IL
1
F
5
,
PDGFB
,
and
CTGF
.
These
launch-via
paracrine
communication-
an
inflammatory
response
in
the
dermis
,
accompanied
by
the
presence
of
TGF-β
,
IL
-
6
,
and
CTGF
,
activation
of
fibroblasts
and
their
differentiation
to
myofibroblasts
,
which
secrete
and
deposit
increased
amounts
of
extracellular
matrix
proteins
.
These
data
are
concordant
with
a
model
wherein
repeated
cycles
of
epidermal
cell
stress
,
cytokine
secretion
,
dermal
inflammation
,
and
profibrotic
processes
underlie
mucocutaneous
fibrosis
in
KS
.
Diseases
Validation
Diseases presenting
"skin disorder"
symptom
aniridia
congenital adrenal hyperplasia
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
harlequin ichthyosis
junctional epidermolysis bullosa
kindler syndrome
lamellar ichthyosis
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