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Trends in the prevalence of tuberous sclerosis complex manifestations: an epidemiological study of 166 Japanese patients.
[lymphangioleiomyomatosis]
Tuberous
sclerosis
complex
(
TSC
)
is
an
autosomal
dominant
disorder
with
multi-system
involvement
and
variable
manifestations
.
There
has
been
significant
progress
in
TSC
research
and
the
development
of
technologies
used
to
diagnose
this
disorder
.
As
a
result
,
individuals
with
mild
TSC
are
now
being
diagnosed
,
including
many
older
adults
who
have
not
developed
seizures
or
cognitive
abnormalities
.
We
conducted
a
statistical
analysis
of
the
frequency
of
TSC
manifestations
in
a
population
of
Japanese
adults
and
children
,
comparing
our
findings
with
historical
data
.
The
chi
-square
test
was
used
to
examine
the
frequency
of
each
manifestation
by
age
.
A
total
of
166
outpatients
at
the
Department
of
Dermatology
of
Osaka
University
Hospital
during
the
period
from
January
2001
to
March
2011
were
included
in
the
study
.
Compared
to
previous
reports
,
the
frequency
of
neurologic
manifestations
(
excepting
autism
)
was
lower
in
this
cohort
,
and
the
frequency
of
skin
manifestations
(
excepting
hypomelanotic
macules
)
was
higher
in
this
cohort
.
The
frequencies
of
pulmonary
lymphangioleiomyomatosis
and
renal
manifestations
were
not
significantly
different
from
those
previously
reported
.
Regarding
the
association
of
each
manifestation
with
age
,
the
frequency
of
neurologic
manifestations
(
excepting
subependymal
giant
cell
astrocytoma
)
was
significantly
higher
in
younger
patients
than
in
older
patients
.
The
frequency
of
skin
manifestations
and
renal
angiomyolipoma
were
significantly
higher
in
older
patients
than
in
younger
patients
.
Because
of
their
high
frequency
and
visibility
,
skin
manifestations
are
useful
in
the
diagnosis
of
TSC
.
Moreover
,
uterine
perivascular
epithelioid
cell
tumor
was
also
characterized
as
a
new
findings
associated
with
TSC
.
Diseases
Validation
Diseases presenting
"skin manifestations"
symptom
child syndrome
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
familial mediterranean fever
harlequin ichthyosis
inclusion body myositis
kindler syndrome
lymphangioleiomyomatosis
malignant atrophic papulosis
sneddon syndrome
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