Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
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
"skin biopsies"
symptom
cadasil
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
fabry disease
harlequin ichthyosis
junctional epidermolysis bullosa
kindler syndrome
malignant atrophic papulosis
neonatal adrenoleukodystrophy
omenn syndrome
pyruvate dehydrogenase deficiency
sneddon syndrome
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom