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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
"skin diseases"
symptom
cutaneous mastocytosis
dentinogenesis imperfecta
dracunculiasis
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
erythropoietic protoporphyria
fabry disease
harlequin ichthyosis
inclusion body myositis
junctional epidermolysis bullosa
kindler syndrome
lamellar ichthyosis
oculocutaneous albinism
papillon-lefèvre syndrome
sneddon syndrome
systemic capillary leak syndrome
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