Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
[Multiple hemangiomas, polyposis coli, endometrial and papillary thyroid cancer].
[cowden syndrome]
A
27
-
year
-old
female
patient
presented
with
multiple
lipomas
and
cavernous
hemangiomas
of
the
skin
,
hemangioma
of
the
parotid
gland
,
polyps
of
the
gastrointestinal
tract
and
endometrial
carcinoma
.
After
1
year
the
patient
presented
with
papillary
thyroid
carcinoma
and
a
diagnosis
of
Cowden
syndrome
(
CS
)
was
made
.
Genetic
testing
revealed
a
pathogenic
PTEN
gene
mutation
.
Hereditary
tumor
syndromes
,
such
as
CS
are
underdiagnosed
.
Clinical
management
can
be
adjusted
to
the
needs
of
CS
patients
only
if
an
early
diagnosis
is
made
.
In
CS
the
risk
for
thyroid
,
breast
and
endometrial
cancer
is
severely
increased
.
