Rare Diseases Symptoms Automatic Extraction
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A random Abstract
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Cowden Syndrome: report of a case and brief review of literature.
[cowden syndrome]
We
present
the
case
of
a
female
patient
with
facial
cutaneous
lesions
,
a
cobblestone-like
pattern
of
the
oral
mucosa
,
and
verruciform
lesions
on
the
hand
since
her
youth
.
She
reported
a
history
of
breast
cancer
,
endometrial
cancer
,
melanoma
and
multiple
benign
tumors
and
cysts
.
PTEN
gene
analysis
was
performed
and
confirmed
Cowden
Syndrome
,
a
rare
genodermatosis
with
an
autosomal
dominant
pattern
of
inheritance
,
characterized
by
multiple
hamartomas
.
The
phosphatase
and
tensin
homolog
(
PTEN
)
gene
negatively
regulates
cell
proliferation
and
cell
cycle
progression
.
Loss
of
PTEN
function
contributes
to
an
increased
risk
of
cancer
.
We
emphasize
the
importance
of
early
detection
and
accurate
management
of
Cowden
Syndrome
.
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