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[Epidermolysis bullosa. An update].
[kindler syndrome]
Epidermolysis
bullosa
(
EB
)
represents
a
group
of
diseases
characterized
by
skin
fragility
usually
developing
blisters
after
minimal
trauma
.
The
clinical
picture
ranges
from
mild
subtypes
with
minor
skin
reactions
to
severe
forms
with
lethal
outcome
within
the
first
months
of
life
.
In
the
severe
generalized
subtypes
,
complications
such
as
aggressive
squamous
cell
carcinoma
of
the
skin
,
anemia
,
esophageal
stenosis
and
cardiomyopathy
can
occur
so
that
multidisciplinary
patient
care
is
necessary
.
EB
can
be
divided
in
four
types--
EB
simplex
(
EBS
)
,
junctional
EB
(
JEB
)
,
dystrophic
EB
(
DEB
)
and
Kindler
syndrome
.
All
together
33
subtypes
can
be
distinguished
.
In
2008
a
revised
EB
classification
was
introduced
.
Several
eponyms
for
EB
subtypes
were
replaced
by
descriptive
names
.
The
review
presents
the
EB
subtypes
based
on
the
new
EB
classification
system
,
the
molecular
background
and
new
therapeutic
options
.
Diseases
Validation
Diseases presenting
"severe forms"
symptom
classical phenylketonuria
congenital adrenal hyperplasia
congenital toxoplasmosis
cystinuria
dentin dysplasia
dentinogenesis imperfecta
dystrophic epidermolysis bullosa
hydrocephalus with stenosis of the aqueduct of sylvius
junctional epidermolysis bullosa
kindler syndrome
omenn syndrome
primary hyperoxaluria type 1
pyomyositis
severe combined immunodeficiency
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