Rare Diseases Symptoms Automatic Extraction
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Disorders of the cutaneous basement membrane zone--the paradigm of epidermolysis bullosa.
[kindler syndrome]
The
cutaneous
basement
membrane
zone
(
BMZ
)
is
a
highly
specialized
functional
complex
that
provides
the
skin
with
structural
adhesion
and
resistance
to
shearing
forces
.
Its
regulatory
functions
include
control
of
epithelial-mesenchymal
interactions
under
physiological
and
pathological
conditions
.
Mutations
in
genes
encoding
components
of
the
BMZ
are
associated
with
inherited
skin
disorders
of
the
epidermolysis
bullosa
(
EB
)
group
,
characterized
by
skin
fragility
,
mechanically
induced
blisters
and
erosions
of
the
skin
and
mucous
membranes
.
Although
most
disease-associated
genes
are
known
,
the
genetic
basis
of
new
EB
subtypes
linked
to
mutations
in
genes
for
focal
adhesion
proteins
was
uncovered
only
recently
.
The
molecular
mechanisms
leading
to
blistering
,
abnormal
wound
healing
,
predisposition
to
skin
cancer
,
and
other
complications
in
EB
have
been
elucidated
using
animal
models
and
disease
proteomics
.
The
rapid
progress
in
understanding
the
molecular
basis
of
EB
has
enabled
the
development
of
strategies
for
biologically
valid
causal
therapies
.