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Verrucous carcinoma in epidermolysis bullosa simplex is possibly associated with a novel mutation in the keratin 5 gene.
[epidermolysis bullosa simplex]
Epidermolysis
bullosa
simplex
(
EBS
)
is
mainly
caused
by
mutations
in
the
KRT
5
and
KRT
14
genes
.
Squamous
cell
carcinoma
(
SCC
)
represents
the
second
most
frequent
skin
neoplasia
with
complex
aetiology
.
The
molecular
events
disrupting
the
orchestrated
interplay
between
the
cytoskeleton
,
cell
adhesion
molecules
and
signalling
proteins
are
ill
understood
in
SCC
.
We
describe
the
molecular
background
and
the
unusual
course
of
the
disease
in
a
patient
with
EBS
Dowling-
Meara
,
severe
keratoderma
and
a
massive
verrucous
carcinoma
.
Skin
and
tumour
samples
from
the
patient
were
analysed
using
light
microscopy
,
immunohistochemistry
and
immunofluorescence
mapping
.
Mutation
analysis
of
the
KRT
5
and
KRT
14
genes
identified
the
novel
KRT
5
mutation
p
.
E
477
D
.
Invasive
tumour
areas
were
characterized
by
downregulation
of
keratins
5
and
14
,
reduced
and
irregular
desmocollin-
2
expression
and
increased
expression
of
keratins
6
,
16
and
17
.
Levels
of
Ki-
67
were
increased
and
levels
of
E
-
cadherin
strongly
reduced
in
the
tumour
tissue
.
In
this
case
a
novel
KRT
5
mutation
led
to
increased
fragility
of
keratinocytes
.
Desmosome
and
adherens
junctions
were
destabilized
,
which
may
trigger
keratinocyte-mediated
inflammation
,
possibly
via
p
120
-
catenin-dependent
signalling
,
suggesting
a
link
between
a
keratin
mutation
and
SCC
,
which
adds
weight
to
the
hypothesis
that
disturbance
of
the
cytoskeleton
represents
a
major
cause
in
the
appearance
of
the
malignant
phenotype
.
Some
individuals
with
EBS
may
be
at
risk
of
developing
secondary
SCC
.
Diseases
Validation
Diseases presenting
"increased expression of keratins"
symptom
epidermolysis bullosa simplex
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