Rare Diseases Symptoms Automatic Extraction
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[Cowden syndrome].
[cowden syndrome]
Cowden
syndrome
is
rare
;
oral
symptoms
are
not
always
diagnosed
.
This
case
of
Cowden
syndrome
was
revealed
by
gingival
hypertrophy
.
A
21
-
year
-old
female
patient
consulted
for
gingival
hypertrophy
and
multiple
papules
in
the
mouth
.
She
had
a
history
of
thyroid
lobectomy
due
to
a
goiter
.
The
gingival
papillomatosis
and
the
goiter
suggested
a
Cowden
syndrome
.
The
diagnosis
was
confirmed
clinically
by
facial
skin
papules
.
Cutaneous
and
oral
lesions
are
usually
the
first
symptoms
of
the
syndrome
.
Diffuse
gingival
papillomatosis
may
suggest
a
Cowden
syndrome
and
should
lead
to
screen
for
associated
symptoms
.
A
high
-risk
diagnosis
of
breast
and
thyroid
cancer
is
associated
to
Cowden
syndrome
and
the
patient
should
have
a
yearly
follow-up
.
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