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A random Abstract
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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
.
Diseases
Validation
Diseases presenting
"breast cancer"
symptom
acute rheumatic fever
aromatase deficiency
carcinoma of the gallbladder
child syndrome
cowden syndrome
cutaneous mastocytosis
dedifferentiated liposarcoma
esophageal squamous cell carcinoma
junctional epidermolysis bullosa
kindler syndrome
liposarcoma
lymphangioleiomyomatosis
oral submucous fibrosis
proteus syndrome
severe combined immunodeficiency
systemic capillary leak syndrome
von hippel-lindau disease
waldenström macroglobulinemia
werner syndrome
wiskott-aldrich syndrome
This symptom has already been validated
