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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
.