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Immunofluorescence mapping (IFM) in inherited epidermolysis bullosa - A study of eighty-six cases from India.
[kindler syndrome]
Epidermolysis
bullosa
(
EB
)
poses
diagnostic
challenges
in
infancy
.
In
India
,
the
diagnosis
is
largely
clinical
.
There
were
no
facilities
to
perform
IFM
until
recently
and
electron
microscopy
,
which
requires
expertise
to
interpret
,
is
limited
to
a
few
research
laboratories
.
The
aim
of
the
study
was
to
describe
the
pattern
of
IFM
staining
in
the
various
forms
of
EB
in
Indian
patients
and
to
correlate
these
findings
with
clinical
diagnosis
.
Method-
we
conducted
a
cross-sectional
study
of
IFM
findings
in
EB
.
Antibodies
against
type
IV
collagen
,
cytokeratin
14
,
laminin
332
and
type
VII
collagen
were
used
.
Clinical
correlation
was
done
in
all
cases
and
concordance-
discordance
rates
were
calculated
.
Eighty
-
six
patients
with
a
diagnosis
of
EB
were
included
in
the
study
.
There
were
29
EB
simplex
(
EBS
)
,
18
junctional
EB
(
JEB
)
and
15
dystrophic
EB
(
DEB
)
cases
.
The
remaining
24
cases
included
rare
variants
,
cases
with
overlapping
clinical
features
and
cases
where
EB
type
was
not
known
.
On
IFM
,
there
were
32
EBS
,
15
JEB
,
17
DEB
and
2
Kindler
Syndrome
(
KS
)
cases
.
Two
cases
were
not
EB
and
18
were
inconclusive
.
IFM
could
establish
the
type
in
12
/
15
cases
(
80
%
)
that
had
overlapping
clinical
features
.
Most
of
these
cases
were
under
one
year
of
age
.
Overall
the
concordance
was
57
percent
and
was
best
seen
in
EBS
cases
.
This
is
the
first
large
study
of
immunofluorescence
mapping
in
the
subtypes
of
EB
in
Indian
patients
.
The
study
provides
a
framework
for
better
understanding
of
EB
in
Indian
patients
and
for
a
better
diagnosis
and
management
particularly
in
the
infantile
period
.
This
article
is
protected
by
copyright
.
All
rights
reserved
.
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