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Harlequin ichthyosis and other autosomal recessive congenital ichthyoses: the underlying genetic defects and pathomechanisms.
[harlequin ichthyosis]
Autosomal
recessive
congenital
ichthyoses
(
ARCI
)
include
several
severe
subtypes
including
harlequin
ichthyosis
(
HI
)
,
lamellar
ichthyosis
and
non-
bullous
congenital
ichthyosiform
erythroderma
.
Patients
with
these
severe
types
of
ichthyoses
frequently
show
severe
hyperkeratosis
and
scales
over
a
large
part
of
the
body
surface
form
birth
and
their
quality
of
life
is
often
severely
affected
.
Recently
,
research
into
the
pathomechanisms
of
these
severe
congenital
ichthyoses
have
advanced
dramatically
and
led
to
the
identification
of
several
causative
genes
and
molecules
underlying
the
genetic
defects
.
To
date
,
seven
loci
have
been
identified
that
are
associated
with
ARCI
and
,
among
them
,
five
causative
genes
and
molecules
have
been
detected
.
The
five
genes
are
transglutaminase
1
gene
(
TGM
1
)
,
ABCA
12
,
two
lipoxygenase
genes
,
ALOXE
3
and
ALOX
12
B
and
ichthyin
.
One
of
these
components
,
ABCA
12
,
has
recently
been
shown
to
be
a
keratinocyte
lipid
transporter
associated
with
lipid
transport
in
lamellar
granules
and
loss
of
ABCA
12
function
leads
to
a
defective
lipid
barrier
in
the
stratum
corneum
,
resulting
in
the
HI
phenotype
.
Transglutaminse
1
deficiency
was
reported
to
cause
a
malformed
cornified
cell
envelope
leading
to
a
defect
in
the
intercellular
lipid
layers
in
the
stratum
corneum
and
defective
stratum
corneum
barrier
function
resulting
in
an
ichthyosis
phenotype
.
Thus
,
defective
intercellular
lipid
layers
are
major
findings
in
autosomal
recessive
congenital
ichthyoses
.
Information
concerning
ARCI
genetic
defects
and
disease
pathomechanisms
are
beneficial
for
providing
better
treatments
and
genetic
counseling
including
prenatal
diagnosis
for
families
affect
by
ichthyoses
.
Diseases
Validation
Diseases presenting
"lipid transport in lamellar granules"
symptom
harlequin ichthyosis
lamellar ichthyosis
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