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Bullous pemphigoid in a patient with suspected non-Herlitz junctional epidermolysis bullosa.
[junctional epidermolysis bullosa]
A
56
-
year
-old
man
with
lifelong
trauma-induced
blisters
,
nail
dystrophy
and
dental
enamel
hypoplasia
presented
with
a
new
spontaneous
blistering
eruption
.
Clinicopathologically
,
he
had
evidence
of
both
an
inherited
and
an
acquired
blistering
disorder
:
non-
Herlitz
junctional
epidermolysis
bullosa
(
nHJEB
)
and
bullous
pemphigoid
(
BP
)
.
HIstological
examination
of
a
skin
biopsy
found
reduced
(
but
not
absent
)
collagen
XVII
in
nonlesional
skin
,
in
vivo
bound
anticollagen
XVII
antibodies
in
perilesional
skin
,
and
prominent
eosinophils
in
perilesional
and
lesional
skin
,
with
subepidermal
blistering
.
Circulating
anticollagen
XVII
antibodies
were
also
present
.
Treatment
with
oral
corticosteroids
and
mycophenolate
mofetil
led
to
clinical
control
of
the
BP
but
had
no
effect
on
the
mechanobullous
blistering
.
Our
patient
is
unusual
in
that
his
skin
retains
some
labelling
for
collagen
XVII
rather
than
having
the
complete
absence
of
immunoreactivity
expected
in
patients
with
generalized
nHJEB
.
Moreover
,
we
were
unable
to
identify
any
pathogenic
mutations
in
the
COL
17
A
1
gene
encoding
collagen
XVII
(
or
in
other
EB-associated
basement
membrane
genes
)
.
It
is
plausible
that
the
long
-term
consequences
of
basement
membrane
disruption
in
our
patient
,
perhaps
associated
with
atypical
inherited
COL
17
A
1
pathology
,
might
result
in
a
conformationally
altered
and
more
immunogenic
protein
with
the
subsequent
development
of
anticollagen
XVII
antibodies
and
BP
as
a
secondary
pathology
.
Diseases
Validation
Diseases presenting
"prominent eosinophils in perilesional"
symptom
junctional epidermolysis bullosa
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