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Prevalence of specific anti-skin autoantibodies in a cohort of patients with inherited epidermolysis bullosa.
[kindler syndrome]
Inherited
epidermolysis
bullosa
(
EB
)
is
a
group
of
skin
diseases
characterized
by
blistering
of
the
skin
and
mucous
membranes
.
There
are
four
major
types
of
EB
(
EB
simplex
,
junctional
EB
,
dystrophic
EB
and
Kindler
syndrome
)
caused
by
different
gene
mutations
.
Dystrophic
EB
is
derived
from
mutations
in
the
type
VII
collagen
gene
(
COL
7
A
1
)
,
encoding
a
protein
which
is
the
predominant
component
of
the
anchoring
fibrils
at
the
dermal-epidermal
junction
.
F
or
the
first
time
in
literature
,
we
have
evaluated
the
presence
of
anti-
skin
autoantibodies
in
a
wider
cohort
of
patients
suffering
from
inherited
EB
and
ascertained
whether
they
may
be
a
marker
of
disease
activity
.
Sera
from
patients
with
inherited
EB
,
17
with
recessive
dystrophic
EB
(
RDEB
)
,
10
with
EB
simplex
(
EBS
)
were
analysed
.
As
much
as
20
patients
with
pemphigus
vulgaris
,
21
patients
with
bullous
pemphigoid
and
20
healthy
subjects
were
used
as
controls
.
A
nti-
skin
autoantibodies
were
tested
in
all
samples
with
the
Indirect
Immunofluorescence
(
IIF
)
method
and
the
currently
available
ELISA
method
in
order
to
detect
anti-
type
VII
collagen
,
anti-
BP
180
and
anti-
BP
230
autoantibodies
.
T
he
mean
concentrations
of
anti-
type
VII
collagen
autoantibodies
titres
,
anti-
BP
180
and
anti-
BP
230
autoantibodies
were
statistically
higher
in
RDEB
patients
than
in
EBS
patients
.
The
sensitivity
and
specificity
of
the
anti-
type
VII
collagen
ELISA
test
were
88
.
2
%
and
96
.
7
%
.
The
Birmingham
Epidermolysis
Bullosa
Severity
score
,
which
is
used
to
evaluate
the
severity
of
the
disease
,
correlated
with
anti-
skin
autoantibodies
titres
.
The
precise
pathogenic
role
of
circulating
anti-
skin
autoantibodies
in
RDEB
is
unclear
.
There
is
a
higher
prevalence
of
both
anti-
type
VII
collagen
and
other
autoantibodies
in
patients
with
RDEB
,
but
their
presence
can
be
interpreted
as
an
epiphenomenon
.
Diseases
Validation
Diseases presenting
"first time in literature"
symptom
kindler syndrome
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