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A Japanese case of Kindler syndrome.
[kindler syndrome]
A
25
-
year
-old
Japanese
woman
presented
with
contracture
of
the
fingers
and
toes
,
and
difficulty
in
opening
her
mouth
.
Her
grandparents
are
first
cousins
,
but
none
of
the
other
members
of
the
family
are
affected
.
Bulla
formation
started
at
birth
on
areas
of
the
skin
that
received
pressure
,
and
in
infancy
and
early
childhood
the
lesions
were
limited
only
to
the
acral
areas
.
She
also
had
bilateral
,
incomplete
syndactylies
involving
all
web
spaces
(
Fig
.
1
a
)
.
The
formation
of
blisters
ceased
after
the
age
of
15
years
,
but
a
generalized
progressive
poikiloderma
then
appeared
with
accompanying
cutaneous
atrophy
of
the
skin
of
the
neck
,
trunk
,
and
extremities
(
Fig
.
1
b
)
.
The
patient
experienced
mild
photosensitivity
of
the
face
and
neck
.
At
age
18
years
,
surgical
removal
of
the
webbing
of
all
her
fingers
was
performed
.
Oral
examination
showed
atrophy
of
the
buccal
mucosa
,
and
an
inability
to
fully
open
the
mouth
.
The
patient
also
suffered
from
poor
dentition
and
easily
bleeding
gums
,
but
had
no
symptoms
of
esophageal
dysfunction
.
Histology
of
separate
biopsy
specimens
,
taken
from
the
poikilodermatous
pretibial
and
trunk
skin
,
showed
classical
features
of
poikiloderma
,
namely
epidermal
atrophy
with
flattening
of
the
rete
ridges
,
vacuolization
of
basal
keratinocytes
,
pigmentary
incontinence
,
and
mild
dermal
perivascularization
(
Fig
.
2
a
)
.
Interestingly
,
dyskeratotic
cells
(
Fig
.
2
b
)
and
eosinophilic
rounded
bodies
(
colloid
bodies
)
(
Fig
.
2
c
)
were
frequently
found
at
the
basal
keratinocyte
layer
and
in
the
upper
dermis
,
respectively
.
Pigment
was
also
present
in
the
upper
epidermis
.
To
rule
out
the
possibility
of
a
congenital
epidermolysis
bullosa
,
ultrastructural
and
immunofluorescence
studies
were
performed
.
Ultrastructural
studies
demonstrated
the
reduplication
of
the
basal
lamina
with
branching
structures
within
the
upper
dermis
and
cleavage
between
the
lamina
densa
and
the
cell
membrane
of
the
keratinocytes
(
Fig
.
3
a
)
.
The
numbers
of
associated
anchoring
fibrils
did
not
seem
to
be
reduced
,
and
colloid
bodies
and
dyskeratotic
cells
were
detected
.
Immunofluorescence
studies
with
the
antibody
against
type
VII
collagen
(
LH
7
:
2
)
were
subsequently
carried
out
.
The
results
showed
extensive
broad
bands
with
intermittently
discontinuous
and
reticular
staining
at
the
dermo-epidermal
junction
(
DEJ
)
(
Fig
.
3
b
)
,
whereas
a
linear
distribution
is
typically
seen
in
healthy
tissue
(
data
not
shown
)
.
Interestingly
,
direct
immunofluorescence
studies
revealed
intracellular
accumulation
of
immunoglobulin
G
(
IgG
)
,
IgM
,
IgA
,
and
C
3
in
colloid
bodies
under
the
basement
membrane
(
Fig
.
3
c
)
.
Diseases
Validation
Diseases presenting
"basal keratinocyte layer"
symptom
epidermolysis bullosa simplex
kindler syndrome
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