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A case of esophageal complication in epidermolysis bulhosa simplex.
[epidermolysis bullosa simplex]
It
is
well
known
the
involvement
of
the
gastrointestinal
tract
in
Epidermolysis
Bulhosa
(
EB
)
and
its
consequences
on
both
nutrition
and
growth
.
We
present
a
case
of
a
young
girl
with
EB
diagnosed
soon
after
birth
,
admitted
to
our
emergency
room
with
food
impactation
.
The
endoscopy
revealed
a
double
barrel
esophagus
.
No
medical
or
surgical
therapy
was
started
and
after
2
months
of
enteric
feeding
,
spontaneous
resolution
was
observed
at
endoscopy
.
Skin
biopsy
was
compatible
with
EB
Simplex
.
According
to
the
literature
EB
Simplex
is
the
subtype
the
least
associated
with
GI
tract
involvement
,
presenting
with
dysphagia
in
only
2
%
of
the
patients
,
and
with
the
lowest
cumulative
risk
of
esophageal
stricturing
.
We
present
an
unusual
case
of
EB
simplex
involvement
of
the
esophagus
with
spontaneous
resolution
of
a
false
lumen
,
with
clinical
improvement
of
the
patient
.
Diseases
Validation
Diseases presenting
"skin biopsy"
symptom
adrenomyeloneuropathy
cadasil
cutaneous mastocytosis
dentinogenesis imperfecta
dracunculiasis
epidermolysis bullosa simplex
erdheim-chester disease
erythropoietic protoporphyria
fabry disease
harlequin ichthyosis
inclusion body myositis
junctional epidermolysis bullosa
kindler syndrome
lamellar ichthyosis
malignant atrophic papulosis
monosomy 21
oligodontia
primary effusion lymphoma
primary hyperoxaluria type 1
pyruvate dehydrogenase deficiency
sneddon syndrome
waldenström macroglobulinemia
x-linked adrenoleukodystrophy
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