Rare Diseases Symptoms Automatic Extraction
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A random Abstract
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Occult Breast Cancer due to Multiple Calcified Hamartomas in a Patient with Cowden Syndrome.
[cowden syndrome]
Cowden
syndrome
(
CS
)
is
an
autosomal
dominant
disorder
characterized
by
presence
of
multiple
hamartomas
,
and
other
benign
and
malignant
abnormalities
of
the
breasts
,
skin
,
thyroid
,
endometrium
,
gastrointestinal
tract
,
and
central
nervous
system
.
Hamartomas
are
benign
,
developmentally
disorganized
tumors
that
can
develop
in
any
of
the
above
mentioned
organs
.
The
presence
of
massive
calcifications
in
the
breasts
in
very
young
women
is
an
indication
to
perform
a
breast
MRI
to
exclude
a
neoplasm
since
,
like
in
the
current
case
report
,
presence
of
breast
calcifications
may
obscure
a
neoplasm
.
Although
fibrocystic
disease
and
cooccurrence
of
fibrocystic
disease
and
breast
cancer
are
much
more
common
than
CS
,
the
presence
of
massive
calcifications
in
the
breasts
of
very
young
women
should
elicit
the
possibility
of
an
underlying
genetic
disease
.
Furthermore
,
breast
cancer
and
macrocephaly
are
considered
major
criteria
for
the
diagnosis
of
CS
and
the
combination
of
both
is
enough
to
establish
the
clinical
diagnosis
of
this
entity
.
Fibrocystic
disease
of
the
breasts
and
multinodular
goiter
are
minor
criteria
.
Family
history
is
also
important
for
the
diagnosis
of
(
any
)
hereditary
disease
.
Diseases
Validation
Diseases presenting
"neoplasm"
symptom
adrenal incidentaloma
alexander disease
aromatase deficiency
carcinoma of the gallbladder
cholangiocarcinoma
cowden syndrome
cushing syndrome
cutaneous mastocytosis
dedifferentiated liposarcoma
dentin dysplasia
erdheim-chester disease
esophageal adenocarcinoma
esophageal carcinoma
familial hypocalciuric hypercalcemia
focal myositis
hodgkin lymphoma, classical
hydrocephalus with stenosis of the aqueduct of sylvius
junctional epidermolysis bullosa
kabuki syndrome
liposarcoma
lymphangioleiomyomatosis
pleomorphic liposarcoma
primary effusion lymphoma
proteus syndrome
pyomyositis
von hippel-lindau disease
waldenström macroglobulinemia
well-differentiated liposarcoma
werner syndrome
wolf-hirschhorn syndrome
This symptom has already been validated