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Distinguishing ichthyoses by protein profiling.
[lamellar ichthyosis]
To
explore
the
usefulness
of
protein
profiling
for
characterization
of
ichthyoses
,
we
here
determined
the
profile
of
human
epidermal
stratum
corneum
by
shotgun
proteomics
.
Samples
were
analyzed
after
collection
on
tape
circles
from
six
anatomic
sites
(
forearm
,
palm
,
lower
leg
,
forehead
,
abdomen
,
upper
back
)
,
demonstrating
site-
specific
differences
in
profiles
.
Additional
samples
were
collected
from
the
forearms
of
subjects
with
ichthyosis
vulgaris
(
filaggrin
(
FLG
)
deficiency
)
,
recessive
X-
linked
ichthyosis
(
steroid
sulfatase
(
STS
)
deficiency
)
and
autosomal
recessive
congenital
ichthyosis
type
lamellar
ichthyosis
(
transglutaminase
1
(
TGM
1
)
deficiency
)
.
The
ichthyosis
protein
expression
patterns
were
readily
distinguishable
from
each
other
and
from
phenotypically
normal
epidermis
.
In
general
,
the
degree
of
departure
from
normal
was
lower
from
ichthyosis
vulgaris
than
from
lamellar
ichthyosis
,
parallel
to
the
severity
of
the
phenotype
.
Analysis
of
samples
from
families
with
ichthyosis
vulgaris
and
concomitant
modifying
gene
mutations
(
STS
deficiency
,
GJB
2
deficiency
)
permitted
correlation
of
alterations
in
protein
profile
with
more
complex
genetic
constellations
.
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