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[Bart syndrome associated to lethal junctional epidermolysis bullosa (Herlitz form)].
[junctional epidermolysis bullosa]
We
present
the
case
of
a
newborn
with
congenital
absence
of
skin
in
the
anterior
part
of
the
left
leg
that
shortly
after
developed
bulla
and
erosions
in
hands
,
feet
,
ears
,
buttocks
and
mouth
.
The
cutaneous
biopsy
and
ultrastructural
and
immunohistochemical
studies
showed
a
subepidermal
bulla
in
the
lamina
lucida
,
absence
of
hemidesmosomes
and
marked
decrease
of
laminin
5
,
thus
establishing
the
diagnosis
of
Bart
syndrome
associated
to
the
Herlitz
form
of
lethal
junctional
epidermolysis
bullosa
.
Bart
syndrome
consists
of
congenital
and
localized
absence
of
skin
,
nail
abnormalities
and
mucoc-
cutaneous
bullae
.
It
is
usually
associated
to
dystrophic
epidermolysis
bullosa
.
The
Herlitz
form
of
junctional
epidermolysis
bullosa
is
a
rare
variant
,
usually
lethal
that
is
produced
by
mutations
in
the
genes
coding
for
the
anchor
protein
laminin
5
.
To
our
knowledge
this
is
the
second
case
that
reports
an
association
between
Bart
syndrome
and
lethal
junctional
epidermolysis
bullosa
and
the
first
in
which
the
results
of
immunofluorescence
mapping
are
published
.
Diseases
Validation
Diseases presenting
"marked decrease of laminin 5"
symptom
junctional epidermolysis bullosa
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