Rare Diseases Symptoms Automatic Extraction
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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
"high risk"
symptom
22q11.2 deletion syndrome
acute rheumatic fever
adrenal incidentaloma
alpha-thalassemia
aniridia
canavan disease
congenital diaphragmatic hernia
congenital toxoplasmosis
cowden syndrome
cushing syndrome
cutaneous mastocytosis
esophageal adenocarcinoma
esophageal carcinoma
esophageal squamous cell carcinoma
fabry disease
harlequin ichthyosis
heparin-induced thrombocytopenia
hirschsprung disease
hodgkin lymphoma, classical
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
krabbe disease
legionellosis
liposarcoma
locked-in syndrome
oligodontia
oral submucous fibrosis
papillon-lefèvre syndrome
pendred syndrome
phenylketonuria
primary hyperoxaluria type 1
severe combined immunodeficiency
sneddon syndrome
waldenström macroglobulinemia
werner syndrome
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