Rare Diseases Symptoms Automatic Extraction
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Proliferative retinopathy in Cowden syndrome.
[cowden syndrome]
Cowden
syndrome
is
a
multiple
hamartoma
syndrome
with
a
high
risk
of
breast
and
thyroid
tumours
,
both
benign
and
malignant
.
The
authors
report
a
24
-
year
-old
female
patient
who
presented
with
reduced
vision
in
both
eyes
.
Ocular
examination
showed
vitreous
haemorrhage
secondary
to
retinal
new
vessels
in
both
eyes
.
There
was
no
evidence
of
diabetes
mellitus
,
and
she
had
a
wide
range
of
normal
investigations
.
She
was
labelled
as
idiopathic
retinal
neovascularisation
.
Fifteen
years
later
,
she
presented
with
a
lump
in
her
left
breast
and
a
previous
history
of
excision
of
a
benign
lump
from
her
right
breast
.
She
also
reported
multiple
tumours
in
her
family
.
Clinical
diagnosis
of
Cowden
syndrome
was
made
and
genetic
testing
confirmed
mutation
of
the
PTEN
gene
.
Diseases
Validation
Diseases presenting
"diabetes mellitus"
symptom
acute rheumatic fever
adrenal incidentaloma
adrenomyeloneuropathy
allergic bronchopulmonary aspergillosis
alpha-thalassemia
child syndrome
cholangiocarcinoma
cohen syndrome
congenital adrenal hyperplasia
congenital toxoplasmosis
cowden syndrome
cushing syndrome
cystinuria
esophageal adenocarcinoma
esophageal carcinoma
esophageal squamous cell carcinoma
fabry disease
familial hypocalciuric hypercalcemia
malignant atrophic papulosis
neuralgic amyotrophy
pyomyositis
sneddon syndrome
typhoid
werner syndrome
wolf-hirschhorn syndrome
This symptom has already been validated