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Cutaneous manifestations of gastrointestinal disease: part I.
[cowden syndrome]
Cutaneous
findings
are
not
uncommonly
a
concomitant
finding
in
patients
afflicted
with
gastrointestinal
(
GI
)
diseases
.
The
dermatologic
manifestations
may
precede
clinically
evident
GI
disease
.
Part
I
of
this
2
-
part
CME
review
focuses
on
dermatologic
findings
as
they
relate
to
hereditary
and
nonhereditary
polyposis
disorders
and
paraneoplastic
disorders
.
A
number
of
hereditary
GI
disorders
have
an
increased
risk
of
colorectal
carcinomas
.
These
disorders
include
familial
adenomatous
polyposis
,
Peutz-
Jeghers
syndrome
,
and
juvenile
polyposis
syndrome
.
Each
disease
has
its
own
cutaneous
signature
that
aids
dermatologists
in
the
early
diagnosis
and
detection
of
hereditary
GI
malignancy
.
These
disease
processes
are
associated
with
particular
gene
mutations
that
can
be
used
in
screening
and
to
guide
additional
genetic
counseling
.
In
addition
,
there
is
a
group
of
hamartomatous
syndromes
,
some
of
which
are
associated
with
phosphatase
and
tensin
homolog
(
PTEN
)
gene
mutations
,
which
present
with
concurrent
skin
findings
.
These
include
Cowden
syndrome
,
Bannayan-
Riley
-
Ruvalcaba
syndrome
,
and
Cronkhite-
Canada
syndrome
.
Finally
,
paraneoplastic
disorders
are
another
subcategory
of
GI
diseases
associated
with
cutaneous
manifestations
,
including
malignant
acanthosis
nigricans
,
Leser-
Trélat
sign
,
tylosis
,
Plummer-
Vinson
syndrome
,
necrolytic
migratory
erythema
,
perianal
extramammary
Paget
disease
,
carcinoid
syndrome
,
paraneoplastic
dermatomyositis
,
and
paraneoplastic
pemphigus
.
Each
of
these
disease
processes
have
been
shown
to
be
associated
with
an
increased
risk
of
GI
malignancy
.
This
underscores
the
important
role
of
dermatologists
in
the
diagnosis
,
detection
,
monitoring
,
and
treatment
of
these
disorders
while
consulting
and
interacting
with
their
GI
colleagues
.
Diseases
Validation
Diseases presenting
"particular gene mutations"
symptom
cowden syndrome
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