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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
"early diagnosis"
symptom
achondroplasia
acute rheumatic fever
adrenal incidentaloma
adrenomyeloneuropathy
alexander disease
allergic bronchopulmonary aspergillosis
aromatase deficiency
carcinoma of the gallbladder
cholangiocarcinoma
classical phenylketonuria
coats disease
cohen syndrome
congenital adrenal hyperplasia
congenital diaphragmatic hernia
congenital toxoplasmosis
cowden syndrome
cushing syndrome
cutaneous mastocytosis
cystinuria
dentin dysplasia
dentinogenesis imperfecta
dracunculiasis
erdheim-chester disease
erythropoietic protoporphyria
esophageal carcinoma
esophageal squamous cell carcinoma
fabry disease
familial hypocalciuric hypercalcemia
familial mediterranean fever
gm1 gangliosidosis
hirschsprung disease
holt-oram syndrome
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
inclusion body myositis
kabuki syndrome
kallmann syndrome
kindler syndrome
krabbe disease
locked-in syndrome
monosomy 21
neuralgic amyotrophy
oculocutaneous albinism
oligodontia
omenn syndrome
oral submucous fibrosis
papillon-lefèvre syndrome
phenylketonuria
primary effusion lymphoma
primary hyperoxaluria type 1
proteus syndrome
pyomyositis
pyruvate dehydrogenase deficiency
scrub typhus
severe combined immunodeficiency
sneddon syndrome
systemic capillary leak syndrome
thoracic outlet syndrome
triple a syndrome
typhoid
von hippel-lindau disease
wiskott-aldrich syndrome
wolf-hirschhorn syndrome
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