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Diffuse intestinal ganglioneuromatosis an uncommon manifestation of Cowden syndrome.
[cowden syndrome]
Diffuse
intestinal
ganglioneuromatosis
is
a
hamartomatous
polyposis
characterized
by
a
disseminated
,
intramural
or
transmural
proliferation
of
neural
elements
involving
the
enteric
plexuses
.
It
has
been
associated
with
MEN
II
,
neurofibromatosis
type
1
and
hamartomatous
polyposis
associated
with
phosphatase
and
tensin
homolog
mutation
.
We
report
the
case
of
a
female
patient
with
a
history
of
a
breast
and
endometrial
tumor
who
presented
in
a
colonoscopy
performed
for
rectal
bleeding
diffuse
ganglioneuromatosis
,
which
oriented
the
search
for
other
characteristic
findings
of
Cowden
syndrome
given
the
personal
history
of
the
patient
.
The
presence
of
an
esophagogastric
polyposis
was
also
noted
.
Cowden
syndrome
is
characterized
by
skin
lesions
,
but
it
is
rarely
diagnosed
by
these
lesions
,
because
they
are
usually
overlooked
.
Intestinal
polyposis
is
not
a
major
diagnostic
criterion
but
it
is
very
useful
for
early
diagnosis
.
The
combination
of
colonic
polyposis
and
glucogenic
acanthosis
should
orient
the
diagnosis
to
Cowden
syndrome
.
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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