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Challenges in the management of a patient with Cowden syndrome: case report and literature review.
[cowden syndrome]
We
would
like
to
present
a
patient
with
a
classical
phenotype
of
a
rare
disorder
-
Cowden
syndrome
,
its
diagnostics
and
management
challenges
.
A
breast
surgeon
has
to
be
aware
of
this
rare
condition
when
treating
a
patient
with
breast
manifestations
of
Cowden
syndrome
and
has
to
refer
the
patient
to
a
clinical
geneticist
for
further
evaluation
.
Sequencing
of
the
PTEN
gene
showed
the
Asp
24
G
ly
mutation
.
According
to
the
latest
literature
data
,
the
lifetime
risk
of
breast
cancer
for
Cowden
syndrome
patients
is
81
%
and
surgery
is
a
justified
option
to
reduce
the
risk
of
breast
cancer
.
Bilateral
risk-reducing
mastectomy
with
immediate
reconstruction
was
performed
to
eliminate
further
risk
of
breast
cancer
.
3
years
after
the
risk-reducing
breast
surgery
the
patient
is
satisfied
with
the
outcome
.
This
is
to
our
best
knowledge
the
first
reported
Cowden
syndrome
case
with
follow-up
data
after
risk-reducing
measures
have
been
taken
.
