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A random Abstract
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Neonatal junctional epidermolysis bullosa: treatment conundrums and ethical decision making.
[junctional epidermolysis bullosa]
Junctional
epidermolysis
bullosa
(
JEB
)
,
generalized
severe
(
previously
called
JEB
,
Herlitz-
type
)
has
an
extremely
poor
prognosis
,
with
a
mean
age
of
death
at
5
months
old
and
most
dead
before
age
3
years
.
We
describe
a
typical
case
of
a
neonate
with
JEB
who
developed
failure
to
thrive
before
his
death
from
fungal
septicemia
at
4
months
of
age
.
This
case
highlights
the
ethical
considerations
of
invasive
treatments
such
as
gastrostomy
tube
placements
,
intubations
,
and
central
line
placements
in
neonates
with
JEB
.
We
review
the
literature
as
well
as
discuss
the
ethical
conundrums
in
the
care
of
patients
with
JEB
and
other
severe
forms
of
epidermolysis
bullosa
.
Diseases
Validation
Diseases presenting
"failure to thrive"
symptom
22q11.2 deletion syndrome
alexander disease
child syndrome
congenital diaphragmatic hernia
cystinuria
familial hypocalciuric hypercalcemia
hirschsprung disease
homocystinuria without methylmalonic aciduria
junctional epidermolysis bullosa
kabuki syndrome
kindler syndrome
krabbe disease
neonatal adrenoleukodystrophy
omenn syndrome
papillon-lefèvre syndrome
pyruvate dehydrogenase deficiency
triple a syndrome
wolf-hirschhorn syndrome
zellweger syndrome
This symptom has already been validated