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Urethral meatal stenosis in junctional epidermolysis bullosa: a rare complication effectively treated with a novel and simple modality.
[junctional epidermolysis bullosa]
A
10
-
year
-old
boy
was
diagnosed
with
non-
Herlitz
junctional
epidermolysis
bullosa
(
nh-
JEB
)
shortly
after
birth
when
he
developed
blisters
on
his
feet
and
under
the
toenails
.
His
younger
brother
was
also
affected
by
nh-
JEB
.
Their
parents
were
first
cousins
.
Immunofluorescence
mapping
showed
a
blister
in
the
lamina
lucida
and
reduced
staining
with
GB
3
antibody
against
laminin
V
.
Molecular
analysis
showed
a
homozygous
mutation
in
the
LAMC
2
gene
.
The
patient
complained
of
intermittent
inability
to
pass
urine
,
causing
significant
suprapubic
pain
,
anxiety
,
and
general
discomfort
.
He
reported
the
development
of
blisters
and
erosions
at
the
urethral
meatus
,
which
caused
fusion
of
the
meatal
opening
.
In
order
to
micturate
,
he
had
to
tear
apart
the
fused
tissue
,
resulting
in
considerable
pain
.
Physical
examination
revealed
multiple
healing
erosions
and
atrophic
scars
,
mainly
on
the
legs
(
Fig
.
1
)
,
and
anonychia
of
most
of
the
toenails
.
The
walls
of
the
urethral
meatus
were
adherent
(
Fig
.
2
)
.
The
urethral
meatus
could
not
be
opened
using
a
moderate
amount
of
pressure
by
the
examining
physicians
.
Prevention
of
re
-stenosis
of
the
urethral
meatus
was
accomplished
with
the
application
of
Mepilex
(
Mölnlycke
,
Sweden
)
to
the
urethral
meatus
after
each
micturition
,
where
it
remained
until
the
next
episode
of
micturition
.
Since
the
institution
of
this
care
regimen
10
months
ago
,
there
has
been
no
recurrence
of
the
stenosis
.
Diseases
Validation
Diseases presenting
"atrophic scars"
symptom
junctional epidermolysis bullosa
kindler syndrome
This symptom has already been validated
