Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
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
"skin findings"
symptom
cowden syndrome
cystinuria
erythropoietic protoporphyria
oculocutaneous albinism
proteus syndrome
sneddon syndrome
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom