Rare Diseases Symptoms Automatic Extraction
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Granulation tissue in the eyelid margin and conjunctiva in junctional epidermolysis bullosa with features of laryngo-onycho-cutaneous syndrome.
[junctional epidermolysis bullosa]
Eye
and
adnexal
involvement
in
epidermolysis
bullosa
can
range
from
symptoms
of
mild
irritation
resulting
from
conjunctival
involvement
to
severe
cicatrization
of
the
ocular
surface
and
adnexa
.
We
describe
a
unique
case
of
granulation
tissue
in
the
eyelid
margin
and
conjunctiva
in
a
patient
with
junctional
epidermolysis
bullosa
.
The
eyelid
granulation
tissue
resembled
granulomas
that
seen
in
laryngo-onycho-
cutaneous
syndrome
,
which
is
caused
by
a
mutation
in
an
isoform
of
the
LAMA
3
gene
,
LAMA
3
a
.
On
investigation
,
our
patient
had
a
combination
of
a
unique
mutation
in
LAMA
3
and
the
mutation
I
17
N
in
LAMA
3
a
,
providing
further
evidence
that
laryngo-onycho-
cutaneous
syndrome
is
a
variant
of
junctional
EB
.
