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Atypical epidermolysis bullosa simplex with a missense keratin 14 mutation p.Arg125Cys.
[kindler syndrome]
Epidermolysis
bullosa
(
EB
)
is
a
group
of
hereditary
autosomal
dominant
bullous
diseases
.
EB
is
divided
into
four
major
phenotypes
:
intraepidermal
EB
(
or
EB
simplex
)
,
junctional
EB
,
dermolytic
EB
and
mixed
EB
(
Kindler
syndrome
)
.
EB
simplex
is
further
divided
into
three
subtypes
:
localized
EB
simplex
,
Dowling-
Meara
EB
simplex
and
other
generalized
EB
simplex
.
We
report
a
28
-
year
-old
man
with
EB
simplex
with
a
missense
keratin
14
mutation
p
.
Arg
125
Cys
associated
with
clumping
of
keratin
filaments
and
acantholysis
in
mainly
the
spinous
cells
and
basal
cells
.
Immunohistochemistry
revealed
that
the
broader
expression
of
keratin
5
and
14
was
observed
in
the
epidermis
,
while
the
expression
of
keratin
1
/
10
was
quite
normal
.
Dysregulated
expression
of
keratin
5
/
14
may
hinder
some
functions
or
roles
of
keratin
1
/
10
,
namely
filament
assembly
of
keratin
1
/
10
in
spinous
cell
integrity
,
although
the
expression
of
keratin
1
/
10
was
not
affected
and
this
has
not
been
demonstrated
before
.
Diseases
Validation
Diseases presenting
"clumping of keratin filaments"
symptom
epidermolysis bullosa simplex
kindler syndrome
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