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A case of Cowden syndrome diagnosed from multiple gastric polyposis.
[cowden syndrome]
Cowden
syndrome
is
a
rare
autosomal
dominant
disorder
that
is
characterized
by
multiple
hamartomas
in
a
variety
of
tissues
and
this
is
associated
with
germline
mutations
in
the
phosphatase
and
tensin
homologue
(
PTEN
)
gene
,
which
is
the
tumor
suppressor
gene
located
on
chromosome
10
q
23
.
3
.
It
is
characterized
by
multiple
hamartomatous
neoplasms
of
the
skin
,
oral
mucosa
,
gastrointestinal
(
GI
)
tract
,
bones
,
central
nervous
system
,
eyes
,
and
genitourinary
tract
.
Cowden
syndrome
does
not
have
increased
risk
of
GI
malignancy
;
however
,
it
has
an
increased
risk
of
breast
,
thyroid
and
endometrial
cancer
development
.
Here
the
authors
report
a
rare
case
of
Cowden
syndrome
incidentally
diagnosed
from
multiple
gastric
polyposis
.
A
29
-
year
-old
woman
presented
with
multiple
gastric
polyps
.
The
laboratory
results
were
normal
except
for
mild
anemia
,
with
a
hemoglobin
level
of
11
.
9
g
/
dL
.
Esophagogastroduodenoscopy
revealed
multiple
gastric
,
duodenal
polyps
and
esophageal
acanthosis
.
Colonoscopy
revealed
possible
hamartomatous
polyps
in
the
rectum
.
Under
the
suspicion
of
Cowden
syndrome
,
sonography
of
the
thyroid
and
breasts
was
carried
out
,
which
revealed
multiple
thyroid
masses
.
Subsequent
fine-needle
aspiration
biopsy
revealed
the
presence
of
clusters
of
follicular
epithelial
cells
,
and
due
to
the
possibility
of
malignancy
,
the
patient
underwent
total
thyroidectomy
.
The
pathology
was
reported
as
invasive
follicular
carcinoma
.
A
gene
study
by
direct
sequencing
showed
the
presence
of
a
PTEN
mutation
(
c
.
633
C
>
A
/
p
.
Cys
211
*
)
.
Diseases
Validation
Diseases presenting
"central nervous system"
symptom
22q11.2 deletion syndrome
adrenomyeloneuropathy
alexander disease
aniridia
aromatase deficiency
canavan disease
child syndrome
classical phenylketonuria
congenital toxoplasmosis
cowden syndrome
cushing syndrome
cystinuria
dracunculiasis
erdheim-chester disease
fabry disease
gm1 gangliosidosis
hereditary cerebral hemorrhage with amyloidosis
hirschsprung disease
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kabuki syndrome
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phenylketonuria
proteus syndrome
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x-linked adrenoleukodystrophy
zellweger syndrome
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