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Abnormal deposition of type VII collagen in Kindler syndrome.
[kindler syndrome]
Kindler
syndrome
is
an
extremely
rare
genetic
disorder
with
features
of
epidermolysis
bullosa
and
poikiloderma
congenitale
.
Approximately
70
cases
have
been
documented
in
the
past
50
years
,
but
only
a
few
investigations
of
the
basement
membrane
components
have
been
done
on
these
patients
.
The
aim
of
this
study
was
to
examine
the
components
of
the
basement
membrane
zone
in
search
of
the
pathobiological
defect
(
s
)
responsible
for
the
clinical
findings
from
a
female
16
-
year
-old
patient
diagnosed
with
Kindler
syndrome
.
This
patient
also
suffered
from
advanced
early
-onset
periodontal
disease
.
Biopsies
were
taken
from
inflamed
gingiva
and
noninflamed
oral
mucosa
as
part
of
periodontal
treatment
.
The
basement
membrane
zone
was
examined
using
immunofluorescence
microscopy
to
bullous
pemphigoid
antigens
1
and
2
,
collagen
types
IV
and
VII
,
laminins-
1
and
-
5
,
and
integrins
alpha
3
beta
1
and
alpha
6
beta
4
.
The
biopsies
studied
revealed
blistering
with
trauma
above
the
level
of
lamina
densa
based
on
distribution
of
type
IV
collagen
and
laminin-
1
at
the
blister
floor
.
In
the
noninflamed
mucosa
,
discontinuous
areas
of
the
basement
membrane
zone
were
found
.
Expression
of
the
basement
membrane
zone
components
and
the
integrins
studied
appeared
otherwise
normal
with
the
exception
of
type
VII
collagen
which
was
found
in
abnormal
locations
deep
in
the
connective
tissue
stroma
.
Our
results
suggest
that
Kindler
syndrome
is
associated
with
abnormalities
in
the
construction
of
the
basement
membrane
,
especially
in
the
expression
of
type
VII
collagen
.
These
alterations
are
likely
to
play
a
role
as
etiological
factors
leading
to
blister
formation
and
early
onset
periodontal
disease
.
Diseases
Validation
Diseases presenting
"abnormalities in the construction of the basement membrane"
symptom
kindler syndrome
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