Rare Diseases Symptoms Automatic Extraction
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Cowden syndrome complicated by a gastrointestinal stromal tumor.
[cowden syndrome]
To
our
knowledge
,
this
is
the
first
report
of
Cowden
syndrome
complicated
by
a
gastrointestinal
stromal
tumor
(
GIST
)
of
the
small
bowel
.
A
42
-
year
-old
female
patient
was
found
to
have
an
abdominal
mass
that
was
diagnosed
as
the
cause
of
anemia
and
was
surgically
extracted
.
The
surgical
specimen
was
found
to
be
a
GIST
.
During
the
same
period
,
the
patient
underwent
an
endoscopic
examination
of
the
entire
gastrointestinal
tract
.
She
was
also
diagnosed
as
having
Cowden
syndrome
based
on
gastrointestinal
polyps
and
skin
,
thyroid
and
breast
lesions
.
Cowden
syndrome
is
associated
with
germline
mutations
in
the
tumorsuppressor
gene
PTEN
.
PTEN
expression
may
be
essential
to
tumor
growth
and
is
a
predictive
biomarker
of
the
prognosis
of
both
diseases
.
The
present
report
of
such
a
case
is
expected
to
further
the
analysis
of
Cowden
syndrome
.
Diseases
Validation
Diseases presenting
"first report"
symptom
achondroplasia
alexander disease
aniridia
cadasil
canavan disease
child syndrome
cohen syndrome
congenital toxoplasmosis
cowden syndrome
cushing syndrome
cutaneous mastocytosis
cystinuria
dedifferentiated liposarcoma
dentinogenesis imperfecta
dracunculiasis
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
erdheim-chester disease
esophageal squamous cell carcinoma
fabry disease
familial mediterranean fever
focal myositis
harlequin ichthyosis
hirschsprung disease
hodgkin lymphoma, classical
holt-oram syndrome
homocystinuria without methylmalonic aciduria
inclusion body myositis
junctional epidermolysis bullosa
kabuki syndrome
kindler syndrome
krabbe disease
lamellar ichthyosis
liposarcoma
lymphangioleiomyomatosis
monosomy 21
neonatal adrenoleukodystrophy
neuralgic amyotrophy
oculocutaneous albinism
oligodontia
omenn syndrome
pendred syndrome
pleomorphic liposarcoma
primary hyperoxaluria type 1
pyomyositis
pyruvate dehydrogenase deficiency
scrub typhus
severe combined immunodeficiency
sneddon syndrome
triple a syndrome
typhoid
waldenström macroglobulinemia
werner syndrome
wiskott-aldrich syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
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