Rare Diseases Symptoms Automatic Extraction
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A random Abstract
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Management of reproductive health in Cowden syndrome complicated by endometrial polyps and breast cancer.
[cowden syndrome]
Cowden
syndrome
is
an
autosomal-dominant
condition
associated
with
mutations
in
the
tumor
suppressor
gene
PTEN
.
Gynecologic
malignancies
are
common
with
a
5
-
10
%
risk
of
endometrial
cancer
and
25
-
50
%
risk
of
breast
cancer
.
A
37
-
year
-old
woman
with
a
history
of
breast
cancer
,
other
neoplasms
,
and
multiple
skin
lesions
was
diagnosed
with
Cowden
syndrome
after
a
germline
PTEN
mutation
was
identified
.
The
endometrium
had
high
glucose
uptake
on
positron
emission
tomography
scan
and
was
irregularly
thickened
on
ultrasonography
;
biopsy
revealed
endometrial
polyps
and
simple
hyperplasia
.
Fifteen
months
later
,
hysteroscopy
again
confirmed
numerous
benign
endometrial
polyps
.
Recurrent
,
multiple
endometrial
polyps
portend
a
high
risk
of
endometrial
cancer
in
women
with
Cowden
syndrome
.
Monitoring
for
malignancy
and
consideration
of
hysterectomy
after
childbearing
is
completed
is
warranted
.
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