Rare Diseases Symptoms Automatic Extraction
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Mystery case: Cowden syndrome presenting with partial epilepsy related to focal cortical dysplasia.
[cowden syndrome]
A
55
-
year
-old
man
presented
with
seizures
characterized
by
"
tightening
"
of
the
right
side
and
variable
loss
of
awareness
.
EEG
showed
focal
epileptogenic
abnormalities
over
left
and
midline
central
regions
.
MRI
showed
left
frontal
focal
cortical
dysplasia
(
figure
1
)
.
He
had
multiple
skin
lesions
(
figure
2
)
and
colonoscopy
revealed
gastrointestinal
mucosal
ganglioneuromas
.
Genetic
testing
of
PTEN
gene
confirmed
a
diagnosis
of
Cowden
syndrome
(
CS
)
.
Diseases
Validation
Diseases presenting
"skin lesions"
symptom
child syndrome
cowden syndrome
cutaneous mastocytosis
cystinuria
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
erdheim-chester disease
erythropoietic protoporphyria
familial mediterranean fever
focal myositis
gm1 gangliosidosis
heparin-induced thrombocytopenia
hirschsprung disease
junctional epidermolysis bullosa
lamellar ichthyosis
liposarcoma
lymphangioleiomyomatosis
malignant atrophic papulosis
oligodontia
omenn syndrome
papillon-lefèvre syndrome
primary effusion lymphoma
proteus syndrome
severe combined immunodeficiency
sneddon syndrome
waldenström macroglobulinemia
werner syndrome
wiskott-aldrich syndrome
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