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Respiratory tract involvement in a child with epidermolysis bullosa simplex with plectin deficiency: a case report.
[epidermolysis bullosa simplex]
We
report
a
rare
case
of
a
child
with
epidermolysis
bullosa
simplex
(
EBS
)
with
plectin
deficiency
but
without
muscular
dystrophy
,
with
severe
lesions
of
the
oral
cavity
,
oropharyngeal
,
hypopharyngeal
,
laryngeal
,
tracheal
and
bronchial
mucosa
.
Case
report
and
a
review
of
the
world
literature
are
used
.
The
literature
review
revealed
only
five
similar
patients
with
EBS
without
muscular
dystrophy
complicated
by
respiratory
involvement
.
This
paper
highlights
the
potentially
serious
complications
of
the
EB
in
the
form
of
breathing
,
swallowing
and
speech
difficulties
and
describes
the
specific
problems
encountered
in
the
treatment
of
this
patient
.
Epidermolysis
bullosa
(
EB
)
is
a
group
of
severe
hereditary
diseases
,
primarily
of
the
skin
,
but
which
can
also
involve
the
respiratory
and
gastrointestinal
tract
mucosa
.
Respiratory
tract
involvement
is
usually
only
found
in
certain
types
of
EB
.
The
oral
cavity
and
oropharynx
are
involved
more
frequently
than
the
hypopharynx
,
larynx
and
trachea
.
Involvement
of
laryngeal
and
tracheal
mucosa
is
generally
associated
with
an
increased
morbidity
and
mortality
,
numerous
complications
and
therapeutic
difficulties
,
and
is
more
common
in
junctional
EB
and
dystrophic
EB
than
in
EBS
.
We
present
a
rare
case
of
a
child
with
EBS
and
plectin
deficiency
with
pronounced
lesions
of
respiratory
tract
mucosa
from
the
oral
cavity
to
the
bronchi
and
even
extending
into
the
trachea
.
Deciding
on
tracheotomy
requires
thorough
consideration
and
should
not
be
taken
lightly
.
Diseases
Validation
Diseases presenting
"with severe lesions of the oral cavity"
symptom
epidermolysis bullosa simplex
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