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
"cancer"
symptom
achondroplasia
acute rheumatic fever
adrenal incidentaloma
alpha-thalassemia
benign recurrent intrahepatic cholestasis
cadasil
canavan disease
carcinoma of the gallbladder
cholangiocarcinoma
coats disease
congenital adrenal hyperplasia
congenital diaphragmatic hernia
cowden syndrome
cushing syndrome
cutaneous mastocytosis
dedifferentiated liposarcoma
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
erdheim-chester disease
erythropoietic protoporphyria
esophageal adenocarcinoma
esophageal carcinoma
esophageal squamous cell carcinoma
familial hypocalciuric hypercalcemia
familial mediterranean fever
gm1 gangliosidosis
heparin-induced thrombocytopenia
hereditary cerebral hemorrhage with amyloidosis
hirschsprung disease
hodgkin lymphoma, classical
inclusion body myositis
junctional epidermolysis bullosa
kabuki syndrome
kallmann syndrome
kindler syndrome
lamellar ichthyosis
liposarcoma
locked-in syndrome
lymphangioleiomyomatosis
monosomy 21
neuralgic amyotrophy
oculocutaneous albinism
oligodontia
oral submucous fibrosis
papillon-lefèvre syndrome
pendred syndrome
pleomorphic liposarcoma
primary effusion lymphoma
proteus syndrome
pyomyositis
pyruvate dehydrogenase deficiency
severe combined immunodeficiency
sneddon syndrome
systemic capillary leak syndrome
triple a syndrome
von hippel-lindau disease
waldenström macroglobulinemia
well-differentiated liposarcoma
werner syndrome
wiskott-aldrich syndrome
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
This symptom has already been validated