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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
.
Diseases
Validation
Diseases presenting
"failure to thrive"
symptom
22q11.2 deletion syndrome
alexander disease
child syndrome
congenital diaphragmatic hernia
cystinuria
familial hypocalciuric hypercalcemia
hirschsprung disease
homocystinuria without methylmalonic aciduria
junctional epidermolysis bullosa
kabuki syndrome
kindler syndrome
krabbe disease
neonatal adrenoleukodystrophy
omenn syndrome
papillon-lefèvre syndrome
pyruvate dehydrogenase deficiency
triple a syndrome
wolf-hirschhorn syndrome
zellweger syndrome
This symptom has already been validated