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Kindler syndrome.
[kindler syndrome]
Kindler
syndrome
is
a
rare
,
autosomal
recessive
skin
fragility
disorder
characterized
by
blistering
in
infancy
,
followed
by
photosensitivity
and
progressive
poikiloderma
.
Ultrastructural
examination
reveals
marked
basement
membrane
reduplication
and
variable
levels
of
cleavage
at
the
dermal-epidermal
junction
.
The
molecular
pathology
underlying
Kindler
syndrome
has
recently
been
shown
to
involve
loss
-of-function
mutations
in
a
novel
gene
,
KIND
1
,
encoding
kindlin-
1
.
Immunofluorescence
,
gene
expression
and
cell
biology
studies
have
shown
that
kindlin-
1
is
expressed
mainly
in
basal
keratinocytes
and
plays
a
role
in
the
attachment
of
the
actin
cytoskeleton
via
focal
contacts
to
the
extracellular
matrix
.
Thus
,
Kindler
syndrome
is
the
first
genodermatosis
caused
by
a
defect
in
actin-extracellular
matrix
linkage
rather
than
the
classic
keratin-extracellular
matrix
linkage
underlying
the
pathology
of
other
inherited
skin
fragility
disorders
such
as
epidermolysis
bullosa
.
This
article
reviews
the
clinical
features
as
well
as
the
molecular
and
cellular
pathology
of
Kindler
syndrome
and
highlights
the
importance
of
the
new
protein
,
kindlin-
1
,
in
cell-matrix
adhesion
and
its
intriguing
link
to
photosensitivity
.
Diseases
Validation
Diseases presenting
"skin fragility"
symptom
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
erythropoietic protoporphyria
harlequin ichthyosis
junctional epidermolysis bullosa
kindler syndrome
This symptom has already been validated