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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
"breast cancer"
symptom
acute rheumatic fever
aromatase deficiency
carcinoma of the gallbladder
child syndrome
cowden syndrome
cutaneous mastocytosis
dedifferentiated liposarcoma
esophageal squamous cell carcinoma
junctional epidermolysis bullosa
kindler syndrome
liposarcoma
lymphangioleiomyomatosis
oral submucous fibrosis
proteus syndrome
severe combined immunodeficiency
systemic capillary leak syndrome
von hippel-lindau disease
waldenström macroglobulinemia
werner syndrome
wiskott-aldrich syndrome
This symptom has already been validated