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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
"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