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Phosphatase and tensin homolog immunohistochemical staining and clinical criteria for Cowden syndrome in patients with trichilemmoma or associated lesions.
[cowden syndrome]
Trichilemmomas
and
mucocutaneous
papillomatous
papules
are
associated
with
Cowden
syndrome
(
CS
)
.
Germline
Phosphatase
and
tensin
homolog
(
PTEN
)
mutations
have
been
identified
in
34
%
to
80
%
of
those
meeting
clinical
criteria
for
CS
.
PTEN
expression
has
not
been
well
evaluated
in
large
numbers
of
trichilemmoma
.
We
investigated
clinical
criteria
for
CS
in
trichilemmoma
patients
and
studied
PTEN
staining
to
determine
how
often
patients
with
trichilemmoma
have
CS
and
whether
PTEN
staining
is
useful
.
About
102
cases
of
trichilemmoma
or
associated
lesions
from
95
patients
were
collected
.
Clinical
histories
were
reviewed
to
investigate
the
incidence
of
CS
using
International
Cowden
Consortium
operational
criteria
for
diagnosis
of
CS
,
version
2000
.
PTEN
staining
was
performed
and
graded
for
intensity
and
percentage
.
Although
1
patient
had
3
trichilemmoma
or
associated
lesions
,
and
5
had
2
trichilemmoma
or
associated
lesions
,
none
of
95
patients
met
clinical
criteria
for
a
diagnosis
of
CS
.
Twelve
of
the
89
cases
available
for
staining
(
13
.
5
%
)
showed
decreased
PTEN
.
Of
these
,
the
demographic
,
clinical
,
and
pathological
features
were
not
significantly
different
compared
with
PTEN
intact
cases
.
None
of
the
cases
from
the
6
patients
with
more
than
1
trichilemmoma
or
associated
lesions
showed
decreased
PTEN
staining
.
We
thus
conclude
that
the
likelihood
of
a
clinical
diagnosis
of
CS
among
patients
with
a
solitary
or
only
a
few
trichilemmoma
is
extremely
low
.
PTEN
expression
is
decreased
in
some
sporadic
trichilemmomas
or
associated
lesions
.
This
is
the
largest
study
investigating
clinical
history
and
PTEN
staining
in
patients
with
trichilemmoma
or
associated
lesions
.
Because
none
of
our
patients
met
clinical
diagnostic
criteria
for
CS
,
the
direct
correlation
of
PTEN
in
CS
and
sporadic
trichilemmoma
remains
unclear
.
Diseases
Validation
Diseases presenting
"large numbers"
symptom
allergic bronchopulmonary aspergillosis
cowden syndrome
dracunculiasis
inclusion body myositis
legionellosis
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