Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Managing the risk of cancer in Cowden syndrome: a case report.
[cowden syndrome]
Cowden
syndrome
is
a
rare
cancer
predisposition
syndrome
inherited
in
an
autosomal-dominant
fashion
.
The
syndrome
is
characterized
by
hamartomatous
polyps
that
affect
multiple
organs
:
skin
,
mucous
membranes
,
thyroid
,
breast
,
gastrointestinal
tract
,
endometrium
and
brain
.
It
is
also
associated
with
an
increased
risk
of
developing
malignancy
in
many
tissues
but
especially
breast
,
thyroid
and
endometrium
.
We
present
the
case
of
a
30
-
year
-old
Tunisian
woman
with
mental
retardation
who
presented
to
our
facility
with
rectal
hamartomatous
polyps
.
Her
medical
history
included
fibrocystic
disease
of
the
breast
over
the
last
three
years
.
A
physical
examination
revealed
macrocephaly
,
hyperkeratotic
papules
on
the
mid-
facial
skin
,
palmoplantar
keratosis
and
oral
mucosal
papillomatosis
.
A
breast
examination
revealed
nodular
breast
tissue
bilaterally
and
a
diffuse
thyroid
goiter
.
Our
patient
was
clinically
euthyroid
.
A
total
thyroidectomy
was
performed
.
A
histopathologic
examination
revealed
thyroid
papillary
carcinoma
.
A
gastrointestinal
evaluation
revealed
esophageal
and
gastric
polyps
.
Biopsies
showed
hyperplastic
and
adenomatous
lesions
associated
with
Helicobacter
pylori
.
A
final
diagnosis
of
Cowden
syndrome
was
made
according
to
the
syndrome
testing
criteria
adapted
by
the
US
National
Comprehensive
Cancer
Network
.
A
prophylactic
bilateral
mastectomy
was
proposed
but
refused
by
our
patient
.
Our
patient
was
kept
under
surveillance
for
breast
and
colorectal
malignancies
.
Early
and
accurate
diagnosis
of
Cowden
syndrome
is
essential
because
it
is
a
cancer
predisposition
syndrome
that
carries
an
increased
risk
for
developing
malignancy
in
many
tissues
,
especially
breast
and
thyroid
.
For
this
reason
,
education
regarding
the
signs
and
symptoms
of
cancer
is
important
.
All
patients
must
be
screened
for
malignancies
and
options
for
prophylactic
mastectomy
should
be
discussed
.
Guidelines
for
cancer
screening
including
surveillance
and
management
plans
for
these
patients
should
be
distinguished
from
those
of
the
general
population
,
and
may
lead
to
a
more
timely
diagnosis
and
treatment
of
cancers
associated
with
this
syndrome
.
Diseases
Validation
Diseases presenting
"hamartomatous polyps"
symptom
cowden syndrome
This symptom has already been validated