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Localized and generalized forms of blistering in junctional epidermolysis bullosa due to COL17A1 mutations in the Netherlands.
[junctional epidermolysis bullosa]
Mutations
in
the
gene
COL
17
A
1
coding
for
type
XVII
collagen
cause
non-
Herlitz
junctional
epidermolysis
bullosa
(
nH-
JEB
)
.
Here
we
give
an
overview
of
the
genotype-phenotype
correlation
in
12
patients
from
the
Netherlands
with
type
XVII
collagen-
deficient
nH-
JEB
.
Family
and
personal
history
and
clinical
presentation
were
recorded
from
each
patient
,
and
skin
biopsies
of
intact
and
bullous
skin
were
taken
for
immunofluorescence
and
electron
microscopy
.
The
mutations
were
identified
by
analysing
the
patient
's
DNA
isolated
from
peripheral
blood
cells
.
DNA
analysis
identified
five
novel
deletions
:
1284
delA
,
1365
delC
,
3236
delT
,
3600
-
3601
delCT
and
4425
delT
.
Interestingly
,
we
identified
a
new
patient
,
homozygous
for
4425
delT
,
with
an
exceptionally
mild
blistering
phenotype
.
All
together
,
three
patients
had
more
localized
blistering
confined
to
hands
,
lower
legs
and
face
,
absent
or
very
mild
nail
dystrophy
,
normal
primary
hair
and
sparse
secondary
hair
.
Nine
patients
had
generalized
blistering
,
nail
dystrophy
,
sparse
primary
and
absent
secondary
hair
.
All
12
patients
had
amelogenesis
imperfecta
(
enamel
pitting
)
.
Immunofluorescence
(
IF
)
antigen
mapping
with
monoclonal
antibodies
1
A
8
C
and
1
D
1
that
bind
to
type
XVII
collagen
,
but
not
to
its
97
-
kDa
fragment
was
completely
negative
in
patients
with
generalized
blistering
,
whereas
reduced
in
patients
with
localized
blistering
.
Our
data
reveal
that
in
patients
with
COL
17
A
1
mutations
a
localized
nH-
JEB
phenotype
can
be
differentiated
from
a
generalized
nH-
JEB
phenotype
by
IF
antigen
mapping
.
The
data
are
important
for
genetic
counselling
at
early
age
when
the
clinical
phenotype
is
not
yet
clear
.
Diseases
Validation
Diseases presenting
"peripheral blood cells"
symptom
cutaneous mastocytosis
erdheim-chester disease
junctional epidermolysis bullosa
oral submucous fibrosis
triple a syndrome
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