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[Multiple hemangiomas, polyposis coli, endometrial and papillary thyroid cancer].
[cowden syndrome]
A
27
-
year
-old
female
patient
presented
with
multiple
lipomas
and
cavernous
hemangiomas
of
the
skin
,
hemangioma
of
the
parotid
gland
,
polyps
of
the
gastrointestinal
tract
and
endometrial
carcinoma
.
After
1
year
the
patient
presented
with
papillary
thyroid
carcinoma
and
a
diagnosis
of
Cowden
syndrome
(
CS
)
was
made
.
Genetic
testing
revealed
a
pathogenic
PTEN
gene
mutation
.
Hereditary
tumor
syndromes
,
such
as
CS
are
underdiagnosed
.
Clinical
management
can
be
adjusted
to
the
needs
of
CS
patients
only
if
an
early
diagnosis
is
made
.
In
CS
the
risk
for
thyroid
,
breast
and
endometrial
cancer
is
severely
increased
.
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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