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Kindler syndrome: a focal adhesion genodermatosis.
[kindler syndrome]
Kindler
syndrome
(
OMIM
173650
)
is
an
autosomal
recessive
genodermatosis
characterized
by
trauma-induced
blistering
,
poikiloderma
,
skin
atrophy
,
mucosal
inflammation
and
varying
degrees
of
photosensitivity
.
Although
Kindler
syndrome
is
classified
as
a
subtype
of
epidermolysis
bullosa
,
it
has
distinct
clinicopathological
and
molecular
abnormalities
.
The
molecular
pathology
of
Kindler
syndrome
involves
loss
-of-function
mutations
in
a
newly
recognized
actin
cytoskeleton-associated
protein
,
now
known
as
fermitin
family
homologue
1
,
encoded
by
the
gene
FERMT
1
.
This
protein
mediates
anchorage
between
the
actin
cytoskeleton
and
the
extracellular
matrix
via
focal
adhesions
,
and
thus
the
structural
pathology
differs
from
other
forms
of
epidermolysis
bullosa
in
which
there
is
a
disruption
of
the
keratin
intermediate
filament-hemidesmosome
network
and
the
extracellular
matrix
.
In
the
skin
,
fermitin
family
homologue
1
is
mainly
expressed
in
basal
keratinocytes
and
binds
to
the
cytoplasmic
tails
of
beta
1
and
beta
3
integrins
as
well
as
to
fermitin
family
homologue
2
and
filamin-binding
LIM
protein
1
.
It
also
plays
a
crucial
role
in
keratinocyte
migration
,
proliferation
and
adhesion
.
In
this
report
,
we
review
the
clinical
,
cellular
and
molecular
pathology
of
Kindler
syndrome
and
discuss
the
role
of
fermitin
family
homologue
1
in
keratinocyte
biology
.
Diseases
Validation
Diseases presenting
"focal adhesions"
symptom
kindler syndrome
wiskott-aldrich syndrome
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