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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
"multiple thyroid masses"
symptom
cowden syndrome
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