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Hamartomatous polyposis syndromes: a review.
[proteus syndrome]
Hamartomatous
Polyposis
Syndromes
(
HPS
)
are
genetic
syndromes
,
which
include
Peutz-
Jeghers
syndrome
,
Juvenile
polyposis
syndrome
,
PTEN
hamartoma
tumour
syndrome
(
Cowden
Syndrom
,
Bannayan-
Riley
-
Ruvalcaba
and
Proteus
Syndrome
)
as
well
as
hereditary
mixed
polyposis
syndrome
.
Other
syndromes
such
as
Gorlin
Syndrome
and
multiple
endocrine
neoplasia
syndrome
2
B
are
sometimes
referred
to
as
HPS
.
HPS
is
characterized
by
the
development
of
hamartomatous
polyps
in
the
gastrointestinal
tract
as
well
as
several
extra
-
intestinal
findings
such
as
dermatological
and
dysmorphic
features
or
extra
-
intestinal
cancer
.
The
syndromes
are
rare
and
inherited
in
an
autosomal
dominant
manner
.
The
diagnosis
of
HPS
has
traditionally
been
based
on
clinical
criteria
,
but
can
sometimes
be
difficult
as
the
severity
of
symptoms
range
considerably
from
only
a
few
symptoms
to
very
severe
cases
-
even
within
the
same
family
.
De
novo
cases
are
also
frequent
.
However
,
because
of
the
discovery
of
several
associated
germline-
mutations
as
well
as
the
rapid
development
in
genetics
it
is
now
possible
to
use
genetic
testing
more
often
in
the
diagnostic
process
.
Management
of
the
syndromes
is
different
for
each
syndrome
as
extra
-
intestinal
symptoms
and
types
of
cancers
differs
.
Clinical
awareness
and
early
diagnosis
of
HPS
is
important
,
as
affected
patients
and
at
-risk
family
members
should
be
offered
genetic
counselling
and
surveillance
.
Surveillance
in
children
with
HPS
might
prevent
or
detect
intestinal
or
extra
-
intestinal
complications
,
whereas
in
adulthood
surveillance
is
recommended
due
to
an
increased
risk
of
cancer
e
.
g
.
intestinal
cancer
or
breast
cancer
.
Diseases
Validation
Diseases presenting
"hamartoma"
symptom
coats disease
cowden syndrome
focal myositis
liposarcoma
monosomy 21
pendred syndrome
proteus syndrome
werner syndrome
This symptom has already been validated