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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
"early childhood"
symptom
22q11.2 deletion syndrome
achondroplasia
alpha-thalassemia
aniridia
aromatase deficiency
benign recurrent intrahepatic cholestasis
canavan disease
congenital adrenal hyperplasia
congenital diaphragmatic hernia
cystinuria
erythropoietic protoporphyria
fabry disease
gm1 gangliosidosis
junctional epidermolysis bullosa
kabuki syndrome
kindler syndrome
papillon-lefèvre syndrome
proteus syndrome
pyruvate dehydrogenase deficiency
triple a syndrome
werner syndrome
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