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MMP13 can be a useful differentiating marker between squamous cell carcinoma and benign hyperkeratotic lesions in recessive dystrophic epidermolysis bullosa.
[dystrophic epidermolysis bullosa]
Recessive
dystrophic
epidermolysis
bullosa
(
RDEB
)
is
a
severe
hereditary
mechanobullous
disease
resulting
from
mutations
in
the
COL
7
A
1
,
gene
coding
for
type
VII
collagen
.
RDEB
patients
tend
to
develop
squamous
cell
carcinomas
(
SCC
)
at
sites
of
chronic
ulceration
or
scarring
on
the
whole
body
.
Distinguishing
SCC
from
benign
hyperkeratotic
lesions
is
often
difficult
not
only
clinically
but
also
histologically
in
RDEB
patients
.
We
investigated
several
matrix
metalloendopeptidase
(
MMP
)
subtypes
by
comparing
the
DNA
amplification
microarray
findings
between
evident
SCC
and
benign
hyperkeratotic
lesion
in
the
same
RDEB
patient
.
We
report
that
MMP
13
was
found
to
be
strongly
positive
in
SCC
but
negative
in
benign
hyperkeratotic
lesions
.
We
found
that
there
is
an
evident
difference
in
the
transitional
area
between
SCC
and
benign
hyperkeratotic
lesions
.
We
propose
that
MMP
13
may
be
a
useful
differentiating
marker
between
squamous
cell
carcinoma
and
benign
hyperkeratotic
lesions
in
RDEB
.
This
article
is
protected
by
copyright
.
All
rights
reserved
.
Diseases
Validation
Diseases presenting
"severe hereditary mechanobullous disease"
symptom
dystrophic epidermolysis bullosa
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