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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
"female patient"
symptom
achondroplasia
adrenal incidentaloma
alexander disease
aniridia
aromatase deficiency
benign recurrent intrahepatic cholestasis
carcinoma of the gallbladder
coats disease
cohen syndrome
cowden syndrome
cushing syndrome
cutaneous mastocytosis
dedifferentiated liposarcoma
dentinogenesis imperfecta
epidermolysis bullosa simplex
esophageal squamous cell carcinoma
fabry disease
holt-oram syndrome
hydrocephalus with stenosis of the aqueduct of sylvius
kallmann syndrome
kindler syndrome
krabbe disease
lamellar ichthyosis
liposarcoma
lymphangioleiomyomatosis
malignant atrophic papulosis
monosomy 21
neuralgic amyotrophy
oculocutaneous albinism
oligodontia
oral submucous fibrosis
papillon-lefèvre syndrome
pendred syndrome
primary hyperoxaluria type 1
proteus syndrome
pyomyositis
pyruvate dehydrogenase deficiency
sneddon syndrome
systemic capillary leak syndrome
thoracic outlet syndrome
triple a syndrome
von hippel-lindau disease
waldenström macroglobulinemia
x-linked adrenoleukodystrophy
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