Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
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
"pneumonia"
symptom
22q11.2 deletion syndrome
acute rheumatic fever
allergic bronchopulmonary aspergillosis
alpha-thalassemia
classical phenylketonuria
cohen syndrome
congenital diaphragmatic hernia
heparin-induced thrombocytopenia
hydrocephalus with stenosis of the aqueduct of sylvius
junctional epidermolysis bullosa
lamellar ichthyosis
legionellosis
liposarcoma
lymphangioleiomyomatosis
monosomy 21
oculocutaneous albinism
omenn syndrome
pleomorphic liposarcoma
primary effusion lymphoma
proteus syndrome
pyomyositis
scrub typhus
severe combined immunodeficiency
triple a syndrome
waldenström macroglobulinemia
wiskott-aldrich syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
This symptom has already been validated