Rare Diseases Symptoms Automatic Extraction
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A random Abstract
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Cowden Syndrome: report of a case and brief review of literature.
[cowden syndrome]
We
present
the
case
of
a
female
patient
with
facial
cutaneous
lesions
,
a
cobblestone-like
pattern
of
the
oral
mucosa
,
and
verruciform
lesions
on
the
hand
since
her
youth
.
She
reported
a
history
of
breast
cancer
,
endometrial
cancer
,
melanoma
and
multiple
benign
tumors
and
cysts
.
PTEN
gene
analysis
was
performed
and
confirmed
Cowden
Syndrome
,
a
rare
genodermatosis
with
an
autosomal
dominant
pattern
of
inheritance
,
characterized
by
multiple
hamartomas
.
The
phosphatase
and
tensin
homolog
(
PTEN
)
gene
negatively
regulates
cell
proliferation
and
cell
cycle
progression
.
Loss
of
PTEN
function
contributes
to
an
increased
risk
of
cancer
.
We
emphasize
the
importance
of
early
detection
and
accurate
management
of
Cowden
Syndrome
.
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