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Epidemiology of epidermolysis bullosa in the antipodes: the Australasian Epidermolysis Bullosa Registry with a focus on Herlitz junctional epidermolysis bullosa.
[junctional epidermolysis bullosa]
To
present
epidemiologic
and
clinical
data
from
the
Australasian
Epidermolysis
Bullosa
(
EB
)
Registry
,
the
first
orphan
disease
registry
in
Australia
.
Observational
study
(
cross-sectional
and
longitudinal
)
.
Australian
private
dermatology
practice
,
inpatient
ward
,
and
outpatient
clinic
.
Systematic
case
finding
of
patients
with
EB
simplex
,
junctional
EB
(
JEB
)
,
and
dystrophic
EB
and
data
collection
were
performed
throughout
Australia
and
New
Zealand
from
January
1
,
2006
,
through
December
31
,
2008
.
Patients
were
consecutively
enrolled
in
the
study
after
clinical
assessment
and
laboratory
diagnosis
.
Medical
records
were
retrospectively
examined
,
and
physicians
involved
in
EB
care
were
contacted
to
obtain
patient
history
.
A
Herlitz
JEB
case
series
was
prepared
from
registry
data
.
Demographics
and
prognosis
of
patients
with
Herlitz
JEB
.
A
total
of
259
patients
were
enrolled
in
the
study
:
139
with
EBS
,
91
with
dystrophic
EB
,
28
with
JEB
,
and
1
with
Kindler
syndrome
.
Most
enrollees
were
Australian
citizens
(
n
=
243
)
,
with
an
Australian
prevalence
rate
of
10
.
3
cases
per
million
.
The
age
range
in
the
registry
was
birth
to
99
years
,
with
a
mean
and
median
age
of
24
.
1
and
18
.
0
years
,
respectively
.
Ages
were
similar
in
patients
with
EBS
and
dominant
dystrophic
EB
but
were
markedly
lower
in
patients
with
JEB
.
Patients
with
Herlitz
JEB
(
n
=
10
)
had
the
highest
morbidity
and
mortality
rates
,
with
a
mean
age
at
death
of
6
.
8
months
.
Sepsis
,
failure
to
thrive
,
and
tracheolaryngeal
complications
were
the
leading
causes
of
death
.
The
Australasian
EB
registry
is
the
first
registry
in
Australia
and
New
Zealand
to
provide
original
data
on
age
,
sex
,
ethnicity
,
and
geographical
and
disease
subtype
distribution
.
The
Australasian
Herlitz
JEB
cohort
witnessed
a
high
infant
mortality
rate
and
poor
prognosis
overall
.
Diseases
Validation
Diseases presenting
"poor prognosis overall"
symptom
junctional epidermolysis bullosa
kindler syndrome
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