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Autosomal dominant junctional epidermolysis bullosa.
[junctional epidermolysis bullosa]
Epidermolysis
bullosa
(
EB
)
encompasses
a
heterogeneous
group
of
inherited
skin
disorders
associated
with
trauma-induced
blistering
.
The
junctional
forms
of
EB
(
JEB
)
,
Herlitz
JEB
,
non-
Herlitz
JEB
and
JEB
associated
with
pyloric
atresia
have
all
been
attributed
to
autosomal
recessive
inheritance
.
We
describe
a
7
-
year
-old
girl
with
defective
dental
enamel
,
trauma-induced
blistering
and
subsequent
scarring
.
Her
mother
,
a
carrier
of
the
mutation
p
.
G
627
V
in
the
collagen
XVII
gene
(
COL
17
A
1
)
had
evidence
of
hypoplastic
dental
enamel
without
skin
blistering
.
Her
grandmother
had
non-
Herlitz
JEB
as
a
result
of
a
compound
heterozygous
mutation
in
COL
17
A
1
(
p
.
G
627
V
and
c
.
3514
ins
25
)
.
To
explore
the
molecular
,
ultrastructural
and
immunofluorescence
findings
of
the
first
case
of
dominant
JEB
.
Mutational
analysis
of
COL
17
A
1
was
performed
on
the
proband
's
genomic
DNA
.
In
addition
,
transmission
electron
microscopy
and
immunofluorescence
microscopy
were
performed
on
a
nonlesional
skin
biopsy
from
the
proband
and
an
unrelated
healthy
control
.
Direct
sequencing
revealed
a
heterozygous
glycine
substitution
mutation
,
p
.
G
627
V
,
in
COL
17
A
1
.
No
discernible
morphological
abnormalities
were
found
on
transmission
electron
microscopy
;
however
,
immunofluorescence
microscopy
revealed
findings
of
an
altered
distribution
pattern
for
type
XVII
collagen
epitopes
close
to
the
dermal-epidermal
junction
.
T
his
report
describes
the
first
case
of
dominant
JEB
.
Although
some
heterozygous
mutations
in
COL
17
A
1
are
known
to
cause
dental
abnormalities
none
were
associated
with
skin
fragility
.
The
dominant-negative
interference
between
the
proband
's
mutated
type
XVII
collagen
and
the
wild-
type
allele
appears
to
render
the
skin
prone
to
trauma-induced
blister
formation
.
Alternatively
,
other
undisclosed
modifying
genetic
or
epigenetic
factors
might
explain
why
the
patient
gets
blistering
whereas
her
mother
,
who
has
the
same
COL
17
A
1
mutation
,
has
no
skin
fragility
.
Diseases
Validation
Diseases presenting
"skin biopsy from the proband"
symptom
junctional epidermolysis bullosa
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