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Cowden syndrome: report of two cases with immunohistochemical analysis for PTEN expression.
[cowden syndrome]
Cowden
syndrome
(
CS
)
is
a
rare
autosomal
dominant
disorder
characterized
by
multisystem
hamartomatous
growths
and
carcinomas
.
CS
is
linked
to
germ
line
mutations
in
PTEN
(
phosphatase
and
tensin
homolog
)
located
on
chromosome
10
q
23
.
3
.
PTEN
acts
as
a
tumor
suppressor
to
negatively
control
cellular
growth
and
survival
via
the
PI
3
K
/
AKT
signaling
pathway
.
Presented
here
are
2
patients
with
multiple
,
persistent
,
and
asymptomatic
papules
on
the
face
and
the
upper
body
,
histologically
consistent
with
trichilemmomas
.
Diagnosis
of
CS
was
made
in
each
case
based
on
the
established
diagnostic
criteria
and
confirmed
using
immunohistochemistry
directed
against
PTEN
.
We
propose
that
the
assessment
of
PTEN
expression
levels
can
aid
in
the
identification
of
patients
with
CS
.