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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
"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