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Long-term follow-up of patients with Herlitz-type junctional epidermolysis bullosa.
[junctional epidermolysis bullosa]
Junctional
epidermolysis
bullosa
,
type
Herlitz
(
JEB-H
)
is
a
rare
,
autosomal
recessive
disease
caused
by
absence
of
the
epidermal
basement
membrane
adhesion
protein
laminin-
332
.
It
is
characterized
by
extensive
and
devastating
blistering
of
the
skin
and
mucous
membranes
,
leading
to
death
in
early
childhood
.
To
present
the
results
of
the
long
-term
follow-up
of
a
cohort
of
patients
with
JEB-H
,
and
to
provide
guidelines
for
prognosis
,
treatment
and
care
.
All
patients
with
JEB-H
included
in
the
Dutch
Epidermolysis
Bullosa
(
EB
)
Registry
between
1988
and
2011
were
followed
longitudinally
by
our
EB
team
.
Diagnosis
was
established
using
immunofluorescence
antigen
mapping
,
electron
microscopy
and
DNA
analysis
.
In
total
,
we
included
22
patients
with
JEB-H
over
a
23
-
year
period
.
Their
average
age
at
death
was
5
.
8
months
(
range
0
.
5
-
32
.
6
months
)
.
The
causes
of
death
were
,
in
order
of
frequency
:
failure
to
thrive
,
respiratory
failure
,
pneumonia
,
dehydration
,
anaemia
,
sepsis
and
euthanasia
.
The
pattern
of
initial
weight
gain
was
a
predictor
of
lifespan
in
these
patients
.
Invasive
treatments
to
extend
life
did
not
promote
survival
in
our
patients
.
It
is
important
to
diagnose
JEB-H
as
soon
as
possible
after
birth
so
that
the
management
can
be
shifted
from
life-saving
to
comfort
care
.
The
palliative
end-of-life
care
can
take
place
in
hospital
,
but
is
also
safe
in
the
home
setting
.
Suffering
in
patients
with
JEB-H
can
become
so
unbearable
that
in
some
patients
who
do
not
respond
to
adequate
analgesic
and
sedative
treatment
,
newborn
euthanasia
,
performed
according
to
the
Groningen
protocol
,
is
legally
permitted
in
the
Netherlands
.
Diseases
Validation
Diseases presenting
"palliative end-of-life care"
symptom
junctional epidermolysis bullosa
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