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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
"cancer"
symptom
achondroplasia
acute rheumatic fever
adrenal incidentaloma
alpha-thalassemia
benign recurrent intrahepatic cholestasis
cadasil
canavan disease
carcinoma of the gallbladder
cholangiocarcinoma
coats disease
congenital adrenal hyperplasia
congenital diaphragmatic hernia
cowden syndrome
cushing syndrome
cutaneous mastocytosis
dedifferentiated liposarcoma
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
erdheim-chester disease
erythropoietic protoporphyria
esophageal adenocarcinoma
esophageal carcinoma
esophageal squamous cell carcinoma
familial hypocalciuric hypercalcemia
familial mediterranean fever
gm1 gangliosidosis
heparin-induced thrombocytopenia
hereditary cerebral hemorrhage with amyloidosis
hirschsprung disease
hodgkin lymphoma, classical
inclusion body myositis
junctional epidermolysis bullosa
kabuki syndrome
kallmann syndrome
kindler syndrome
lamellar ichthyosis
liposarcoma
locked-in syndrome
lymphangioleiomyomatosis
monosomy 21
neuralgic amyotrophy
oculocutaneous albinism
oligodontia
oral submucous fibrosis
papillon-lefèvre syndrome
pendred syndrome
pleomorphic liposarcoma
primary effusion lymphoma
proteus syndrome
pyomyositis
pyruvate dehydrogenase deficiency
severe combined immunodeficiency
sneddon syndrome
systemic capillary leak syndrome
triple a syndrome
von hippel-lindau disease
waldenström macroglobulinemia
well-differentiated liposarcoma
werner syndrome
wiskott-aldrich syndrome
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
This symptom has already been validated