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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
"cancer"
symptom
achondroplasia
acute rheumatic fever
adrenal incidentaloma
alpha-thalassemia
benign recurrent intrahepatic cholestasis
cadasil
canavan disease
carcinoma of the gallbladder
cholangiocarcinoma
coats disease
congenital adrenal hyperplasia
congenital diaphragmatic hernia
cowden syndrome
cushing syndrome
cutaneous mastocytosis
dedifferentiated liposarcoma
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
erdheim-chester disease
erythropoietic protoporphyria
esophageal adenocarcinoma
esophageal carcinoma
esophageal squamous cell carcinoma
familial hypocalciuric hypercalcemia
familial mediterranean fever
gm1 gangliosidosis
heparin-induced thrombocytopenia
hereditary cerebral hemorrhage with amyloidosis
hirschsprung disease
hodgkin lymphoma, classical
inclusion body myositis
junctional epidermolysis bullosa
kabuki syndrome
kallmann syndrome
kindler syndrome
lamellar ichthyosis
liposarcoma
locked-in syndrome
lymphangioleiomyomatosis
monosomy 21
neuralgic amyotrophy
oculocutaneous albinism
oligodontia
oral submucous fibrosis
papillon-lefèvre syndrome
pendred syndrome
pleomorphic liposarcoma
primary effusion lymphoma
proteus syndrome
pyomyositis
pyruvate dehydrogenase deficiency
severe combined immunodeficiency
sneddon syndrome
systemic capillary leak syndrome
triple a syndrome
von hippel-lindau disease
waldenström macroglobulinemia
well-differentiated liposarcoma
werner syndrome
wiskott-aldrich syndrome
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
This symptom has already been validated