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PTEN hamartoma tumor syndrome: an overview.
[proteus syndrome]
PTEN
hamartoma
tumor
syndrome
(
PHTS
)
encompasses
four
major
clinically
distinct
syndromes
associated
with
germline
mutations
in
the
tumor
suppressor
PTEN
.
These
allelic
disorders
,
Cowden
syndrome
,
Bannayan-
Riley
-
Ruvalcaba
syndrome
,
Proteus
syndrome
,
and
Proteus-like
syndrome
are
associated
with
unregulated
cellular
proliferation
leading
to
the
formation
of
hamartomas
.
Thus
far
,
an
increased
risk
of
malignancy
has
only
been
documented
in
Cowden
syndrome
;
however
,
current
recommendations
advise
that
all
individuals
with
PTEN
hamartoma
tumor
syndrome
follow
the
cancer
surveillance
strategies
suggested
for
Cowden
syndrome
until
further
data
indicate
otherwise
.
Because
any
individual
phenotypic
feature
of
Cowden
syndrome
and
Bannayan-
Riley
-
Ruvalcaba
syndrome
are
frequently
present
in
the
general
population
,
many
individuals
often
go
undiagnosed
and
consequently
do
not
benefit
from
available
cancer
surveillance
strategies
.
Therefore
,
it
is
critical
for
clinicians
to
recognize
the
phenotypic
features
associated
with
these
syndromes
to
accurately
diagnose
and
provide
preventative
care
.
This
overview
details
the
clinical
description
of
the
PTEN
hamartoma
tumor
syndrome
and
associated
disorders
,
their
diagnosis
and
molecular
/
genetic
testing
,
as
well
as
differential
diagnosis
for
assessment
of
other
hamartoma
-associated
syndromes
.
Diseases
Validation
Diseases presenting
"individual phenotypic feature"
symptom
proteus syndrome
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