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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
"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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