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Unusual case of Cowden-like syndrome, neck paraganglioma, and pituitary adenoma.
[cowden syndrome]
Pituitary
tumors
,
paragangliomas
,
and
Cowden
syndrome
do
not
usually
occur
together
.
The
synchronous
presentation
of
papillary
thyroid
carcinoma
and
neck
paraganglioma
was
revealed
in
a
43
-
year
-old
woman
who
had
been
diagnosed
with
a
microprolactinoma
one
decade
before
and
now
presented
with
a
constellation
of
characteristics
that
are
components
of
Cowden
syndrome
,
specifically
macrocephaly
,
multiple
skin
papules
,
fibrocystic
mammary
disease
,
and
uterine
leiomyofibroma
.
Germline
mutation
analysis
of
phosphatase
and
tensin
homolog
(
PTEN
)
,
succinate
dehydrogenase
subunit
B
(
SDHB
)
,
succinate
dehydrogenase
subunit
C
(
SDHC
)
,
and
succinate
dehydrogenase
subunit
D
(
SDHD
)
was
performed
with
revelation
of
3
polymorphic
sites
in
introns
1
,
4
,
and
8
of
the
PTEN
gene
and
1
polymorphic
site
in
exon
1
of
the
SDHB
gene
,
but
absence
of
known
pathogenic
mutations
.
The
coexistence
of
Cowden
-like
syndrome
,
neck
paraganglioma
,
and
pituitary
adenoma
is
described
for
the
first
time
,
and
could
represent
a
novel
genetic
syndrome
with
an
as
yet
unidentified
common
genetic
basis
.
Diseases
Validation
Diseases presenting
"yet unidentified common genetic basis"
symptom
cowden syndrome
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