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Recent advances in the genetics and management of harlequin ichthyosis.
[harlequin ichthyosis]
Harlequin
ichthyosis
(
HI
)
is
the
most
severe
and
devastating
form
of
the
autosomal
recessive
congenital
ichthyoses
(
ARCIs
)
.
Mutations
in
the
ABCA
12
gene
result
in
disruption
of
intercellular
lipid
deposition
in
the
stratum
corneum
and
a
major
skin
barrier
defect
.
Patients
present
at
birth
,
often
premature
,
with
cutaneous
thick
,
yellow
,
hyperkeratotic
plates
with
deep
erythematous
fissures
,
causing
a
typical
facial
appearance
.
Harlequin
ichthyosis
has
often
been
considered
to
be
fatal
,
and
management
tends
to
be
palliative
,
but
follow-up
of
45
affected
infants
has
shown
that
with
good
neonatal
care
and
early
introduction
of
oral
retinoids
,
survival
rates
are
improving
.
Because
ABCA
12
mutations
have
been
identified
,
known
carriers
are
able
to
undergo
preventative
preimplantation
and
prenatal
genetic
testing
.
Experimental
studies
have
shown
recovery
of
lipid
secretion
in
lamellar
granules
using
corrective
gene
therapy
.
Further
research
is
needed
to
develop
alternative
therapies
to
retinoids
in
HI
.
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