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Gastrointestinal complications of epidermolysis bullosa in children.
[junctional epidermolysis bullosa]
Epidermolysis
bullosa
(
EB
)
is
a
group
of
inherited
disorders
characterized
by
skin
and
mucous
membrane
fragility
.
Gastrointestinal
(
GI
)
complications
have
been
described
in
many
types
of
EB
and
are
responsible
for
significant
morbidity
.
To
delineate
the
nature
and
frequency
of
GI
complications
in
a
large
cohort
of
paediatric
patients
with
EB
and
to
postulate
why
some
complications
occur
more
commonly
in
some
specific
subtypes
.
The
case
notes
of
223
children
with
EB
seen
at
a
national
referral
centre
were
examined
retrospectively
for
the
presence
of
GI
symptoms
,
investigations
and
interventions
.
GI
complications
were
present
in
130
/
223
(
58
%
)
of
all
patients
.
In
EB
simplex
,
constipation
and
gastro-oesophageal
reflux
(
GOR
)
were
frequently
observed
.
In
junctional
EB
,
failure
to
thrive
and
protein-losing
enteropathy
(
PLE
)
were
the
prominent
GI
manifestations
.
Constipation
was
common
in
patients
with
dystrophic
EB
(
DEB
)
requiring
laxatives
and
in
some
cases
fibre
supplementation
.
GOR
affected
three
-
quarters
of
those
with
recessive
DEB
,
two
-thirds
also
having
significant
oesophageal
strictures
.
Over
half
of
patients
with
recessive
DEB
required
gastrostomy
insertion
.
Diarrhoea
affected
a
small
but
significant
proportion
of
children
with
recessive
DEB
with
macroscopic
and
/
or
microscopic
changes
of
colitis
in
the
majority
.
GI
problems
in
EB
are
very
common
with
subtype
specificity
for
some
of
these
complications
.
The
occurrence
of
diarrhoea
,
PLE
and
colitis
in
the
context
of
EB
has
not
been
highlighted
previously
,
and
may
arise
secondarily
to
antigenic
exposure
in
the
gut
lumen
as
a
result
of
mucosal
fragility
.
