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Epidermal triglyceride levels are correlated with severity of ichthyosis in Dorfman-Chanarin syndrome.
[lamellar ichthyosis]
Dorfman-
Chanarin
syndrome
(
DCS
)
,
also
referred
to
as
neutral
lipid
storage
disease
with
ichthyosis
,
is
a
rare
autosomal
recessive
form
of
nonbullous
congenital
ichthyosiform
erythroderma
,
characterized
by
the
presence
of
intracellular
lipid
droplets
in
multiorgans
.
DCS
patients
often
have
mutations
in
CGI-
58
,
which
is
an
activator
of
adipose
triglyceride
lipase
(
ATGL
)
,
leading
to
accumulation
of
triglycerides
(
TG
)
.
To
study
whether
a
patient
with
DCS
demonstrates
TG
accumulation
in
the
epidermis
and
to
analyze
whether
TG
levels
are
correlated
with
skin
disease
activity
.
Skin
specimen
from
a
62
-
year
-old
man
with
DCS
was
stained
with
oil
red
O
,
and
analyzed
on
electromicrographs
.
Sequencing
analysis
of
CGI-
58
was
performed
using
the
patient
's
blood
cells
.
The
scales
from
the
lesion
were
subject
to
lipid
analysis
by
high
-performance
thin
-layer
chromatography
(
HPTLC
)
.
The
patient
demonstrated
ichthyoform
erythroderma
with
a
distinct
seasonal
fluctuation
:
his
skin
lesions
were
aggravated
in
summer
but
resolved
during
winter
.
Epidermis
of
the
lesion
showed
intracellular
lipid
droplets
.
Sequencing
analysis
revealed
a
novel
missense
mutation
in
the
exon
3
of
CGI-
58
gene
.
Lipid
analysis
of
the
scales
from
his
lesions
,
compared
with
those
from
normal
human
control
,
revealed
increased
levels
of
triglycerides
(
TG
)
but
,
in
turn
,
decreased
levels
of
free
fatty
acids
,
suggesting
dysfunction
of
adipose
TG
lipase
.
Notably
,
the
TG
levels
in
the
scales
from
the
patient
were
positively
correlated
with
the
severity
of
ichthyosis
.
These
results
suggest
that
TG
accumulation
by
epidermal
keratinocytes
directly
contributes
to
ichthyosiform
phenotype
of
DCS
.
Diseases
Validation
Diseases presenting
"high-performance thin-layer chromatography"
symptom
fabry disease
lamellar ichthyosis
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