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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
"ichthyosis"
symptom
child syndrome
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
harlequin ichthyosis
hirschsprung disease
junctional epidermolysis bullosa
kallmann syndrome
lamellar ichthyosis
This symptom has already been validated