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Risk of squamous cell carcinoma in junctional epidermolysis bullosa, non-Herlitz type: report of 7 cases and a review of the literature.
[junctional epidermolysis bullosa]
Squamous
cell
carcinoma
(
SCC
)
is
the
most
severe
complication
and
most
common
cause
of
death
in
patients
with
recessive
dystrophic
epidermolysis
bullosa
.
The
risk
of
developing
SCC
among
patients
with
junctional
epidermolysis
bullosa
(
JEB
)
is
unclear
from
the
literature
;
however
,
in
our
center
we
noticed
an
unexpected
number
of
SCCs
among
adult
patients
with
JEB
.
To
review
all
documented
patients
with
JEB
in
whom
an
SCC
developed
,
both
from
our
epidermolysis
bullosa
(
EB
)
center
and
those
reported
in
the
literature
.
A
search
in
our
EB
registry
documenting
all
JEB
patients
visiting
our
EB
referral
center
from
1990
through
2010
revealed
7
JEB
patients
who
developed
1
or
more
SCCs
.
A
systematic
literature
search
revealed
8
relevant
articles
documenting
a
total
of
7
patients
who
developed
an
SCC
.
In
our
EB
registry
we
found
7
patients
with
JEB
who
developed
an
SCC
;
these
were
all
adults
classified
with
non-
Herlitz
type
JEB
.
The
frequency
of
developing
an
SCC
among
adult
JEB
patients
(
n
=
28
)
in
our
center
was
therefore
25
%
.
In
the
literature
,
we
found
7
case
reports
of
JEB
complicated
by
SCC
(
also
classified
as
JEB
,
non-
Herlitz
type
)
,
bringing
the
total
number
of
documented
cases
to
14
.
The
first
SCC
in
JEB
patients
developed
at
an
average
age
of
50
years
(
median
,
52
years
;
range
,
28
-
70
years
)
.
In
9
of
14
cases
,
multiple
primary
SCCs
occurred
,
with
a
total
of
45
SCCs
.
The
SCCs
are
most
often
located
on
the
lower
extremities
,
in
areas
of
chronic
blistering
,
long
-standing
erosions
,
or
atrophic
scarring
.
Three
patients
(
21
%
)
developed
metastases
and
died
on
average
8
.
9
years
after
diagnosis
of
the
initial
SCC
.
T
his
study
was
retrospective
and
the
statistical
analyses
were
based
on
a
small
number
of
patients
.
From
their
third
decade
,
adult
patients
with
JEB
have
an
increased
risk
(
1
:
4
)
of
developing
SCC
on
their
lower
extremities
.
The
SCCs
have
a
high
recurrence
rate
and
follow
an
aggressive
course
that
results
in
death
in
1
of
5
patients
.
We
recommend
annual
checks
of
all
JEB
patients
for
SCC
starting
at
25
years
of
age
.
Diseases
Validation
Diseases presenting
"squamous cell carcinoma"
symptom
carcinoma of the gallbladder
child syndrome
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
esophageal adenocarcinoma
esophageal carcinoma
esophageal squamous cell carcinoma
junctional epidermolysis bullosa
kallmann syndrome
kindler syndrome
liposarcoma
monosomy 21
oculocutaneous albinism
oral submucous fibrosis
papillon-lefèvre syndrome
This symptom has already been validated
