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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
"autism"
symptom
22q11.2 deletion syndrome
achondroplasia
aniridia
canavan disease
cohen syndrome
cowden syndrome
gm1 gangliosidosis
kabuki syndrome
krabbe disease
lymphangioleiomyomatosis
proteus syndrome
wolf-hirschhorn syndrome
This symptom has already been validated