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Evaluation and treatment of the newborn with epidermolysis bullosa.
[junctional epidermolysis bullosa]
Epidermolysis
bullosa
(
EB
)
is
a
heterogeneous
group
of
inherited
skin
diseases
characterized
by
increased
skin
fragility
and
variable
degrees
of
extracutaneous
involvement
.
The
clinical
spectrum
ranges
from
localized
skin
disease
to
a
life-threatening
and
disabling
disease
with
extensive
extracutaneous
involvement
.
All
four
major
types
of
EB
,
namely
EB
simplex
,
Junctional
EB
,
Dystrophic
EB
and
Kindler
syndrome
,
can
present
with
blistering
and
erosions
at
birth
and
can
not
be
distinguished
clinically
in
the
newborn
period
.
The
extensive
differential
diagnosis
of
blistering
and
erosions
in
the
neonate
must
be
considered
and
common
etiologies
ruled
out
.
The
diagnosis
of
EB
can
be
confirmed
via
a
skin
biopsy
for
immunoflourescence
mapping
.
This
review
discusses
the
four
major
subtypes
of
EB
and
their
associated
extracutaneous
features
.
The
evaluation
of
a
newborn
suspected
of
having
EB
,
including
diagnosis
and
management
,
is
also
reviewed
.
Diseases
Validation
Diseases presenting
"common etiologies"
symptom
cushing syndrome
cystinuria
junctional epidermolysis bullosa
kallmann syndrome
kindler syndrome
primary effusion lymphoma
scrub typhus
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