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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
"loss-of-function mutations"
symptom
achondroplasia
alpha-thalassemia
aromatase deficiency
child syndrome
cowden syndrome
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
erythropoietic protoporphyria
esophageal adenocarcinoma
familial hypocalciuric hypercalcemia
harlequin ichthyosis
hirschsprung disease
kallmann syndrome
kindler syndrome
lamellar ichthyosis
neonatal adrenoleukodystrophy
pendred syndrome
werner syndrome
x-linked adrenoleukodystrophy
This symptom has already been validated