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Trichilemmomas show loss of PTEN in Cowden syndrome but only rarely in sporadic tumors.
[cowden syndrome]
Trichilemmoma
(
TL
)
can
occur
as
a
solitary
sporadic
lesion
usually
on
the
face
or
as
multiple
facial
lesions
almost
invariably
associated
with
Cowden
syndrome
(
CS
)
.
CS
is
a
multisystem
disorder
caused
by
a
germline
inactivating
mutation
in
PTEN
(
10
q
23
.
31
)
,
a
tumor
suppressor
gene
.
We
sought
to
identify
PTEN
loss
by
immunohistochemistry
(
IHC
)
in
sporadic
and
CS
-associated
TL
to
determine
whether
IHC
is
a
useful
tool
to
assess
an
individual
for
CS
.
S
ix
TL
biopsies
associated
with
CS
and
33
biopsies
without
CS
were
retrieved
.
IHC
for
PTEN
was
performed
.
RESULTS
were
scored
as
positive
(
reactivity
in
TL
cells
)
or
negative
(
no
reactivity
in
TL
cells
)
;
normal
squamous
epithelium
and
vascular
endothelium
served
as
internal
positive
controls
.
Complete
PTEN
loss
was
noted
in
5
/
6
(
83
%
)
CS
-associated
TL
and
1
/
33
(
3
%
)
sporadic
(
non-
CS
)
TL
.
Demonstration
of
complete
PTEN
loss
in
TL
by
IHC
is
strongly
suggestive
of
association
with
CS
,
but
retention
of
PTEN
staining
does
not
entirely
exclude
CS
.
Therefore
,
PTEN
IHC
in
TLs
may
be
helpful
in
screening
TL
for
association
with
CS
,
but
should
be
used
in
context
with
other
established
clinical
criteria
,
and
possibly
germline
PTEN
genotyping
to
confirm
a
diagnosis
of
CS
.
Diseases
Validation
Diseases presenting
"cs"
symptom
cowden syndrome
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