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An update on molecular aspects of the non-syndromic ichthyoses.
[harlequin ichthyosis]
Ichthyosis
includes
a
number
of
subtypes
from
congenital
severe
forms
,
such
as
harlequin
ichthyosis
(
HI
)
,
to
mild
non-
congenital
forms
,
such
as
ichthyosis
vulgaris
.
Recently
,
research
into
the
pathomechanisms
of
ichthyoses
has
dramatically
advanced
and
led
to
the
identification
of
several
causative
genes
and
molecules
underlying
the
genetic
defects
.
In
most
types
of
ichthyosis
,
pathogenic
mechanisms
are
associated
with
defects
in
skin
barrier
function
.
Three
major
components
of
the
stratum
corneum
barrier
are
(
i
)
intercellular
lipid
layers
,
(
ii
)
cornified
cell
envelope
and
(
iii
)
keratin-
filaggrin
degradation
products
.
The
causative
molecules
underlying
ichthyosis
subtypes
include
ABCA
12
,
lipoxygenase-
3
,
12
R-
lipoxygenase
,
CYP
4
F
2
homolog
,
ichthyin
and
steroid
sulphatase
and
all
these
are
thought
to
be
related
to
the
intercellular
lipid
layers
.
Transglutaminase
1
has
a
function
in
cornified
cell
envelope
formation
.
Keratins
1
,
10
and
2
are
involved
in
the
keratin
network
of
suprabasal
keratinocytes
and
filaggrin
are
essential
for
formation
of
keratohyalin
granules
.
In
fact
,
loss
of
ABCA
12
function
leads
to
a
defective
lipid
barrier
in
the
stratum
corneum
,
resulting
in
the
HI
phenotype
and
ABCA
12
is
a
known
keratinocyte
lipid
transporter
associated
with
lipid
transport
in
lamellar
granules
.
Filaggrin
gene
mutations
in
ichthyosis
vulgaris
cause
keratohyalin
granule
deficiency
.
Information
concerning
genetic
defects
and
ichthyotic
disease
pathomechanisms
are
beneficial
to
develop
effective
therapy
and
provide
information
for
genetic
counselling
including
prenatal
diagnosis
for
families
affected
by
ichthyotic
disease
.
Diseases
Validation
Diseases presenting
"molecules underlying the genetic defects"
symptom
harlequin ichthyosis
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