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First Japanese case of atypical progeroid syndrome/atypical Werner syndrome with heterozygous LMNA mutation.
[werner syndrome]
Atypical
progeroid
syndrome
(
APS
)
,
including
atypical
Werner
syndrome
(
AWS
)
,
is
a
progeroid
syndrome
involving
heterozygous
mutations
in
the
LMNA
gene
encoding
the
nuclear
protein
lamin
A
/
C
.
We
report
the
first
Japanese
case
of
APS
/
AWS
with
a
LMNA
mutation
(
p
.
D
300
N
)
.
A
53
-
year
-old
Japanese
man
had
a
history
of
recurrent
severe
cardiovascular
diseases
as
well
as
brain
infarction
and
hemorrhages
.
Although
our
APS
/
AWS
patient
had
overlapping
features
with
Werner
syndrome
(
WS
)
,
such
as
high-pitched
voice
,
scleroderma
,
lipoatrophy
and
atherosclerosis
,
several
cardinal
features
of
WS
,
including
short
stature
,
premature
graying
/
alopecia
,
cataract
,
bird-like
face
,
flat
feet
,
hyperkeratosis
on
the
soles
and
diabetes
mellitus
,
were
absent
.
In
immunofluorescence
staining
and
electron
microscopic
analyses
of
the
patient
's
cultured
fibroblasts
,
abnormal
nuclear
morphology
,
an
increase
in
small
aggregation
of
heterochromatin
and
a
decrease
in
interchromatin
granules
in
nuclei
of
fibroblasts
were
observed
,
suggesting
that
abnormal
nuclear
morphology
and
chromatin
disorganization
may
be
associated
with
the
pathogenesis
of
APS
/
AWS
.
Diseases
Validation
Diseases presenting
"atherosclerosis"
symptom
achondroplasia
acute rheumatic fever
adrenal incidentaloma
alexander disease
aromatase deficiency
benign recurrent intrahepatic cholestasis
cadasil
classical phenylketonuria
congenital adrenal hyperplasia
congenital toxoplasmosis
cushing syndrome
erdheim-chester disease
familial mediterranean fever
harlequin ichthyosis
hereditary cerebral hemorrhage with amyloidosis
inclusion body myositis
sneddon syndrome
werner syndrome
zellweger syndrome
This symptom has already been validated