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Perinatal management of harlequin ichthyosis: a case report and literature review.
[harlequin ichthyosis]
Harlequin
ichthyosis
(
HI
)
is
a
rare
and
severe
form
of
congenital
ichthyosis
.
Linked
to
deletion
and
truncation
mutations
of
a
keratinocyte
lipid
transporter
,
HI
is
characterized
by
diffuse
epidermal
hyperkeratinization
and
defective
desquamation
.
At
birth
,
the
HI
phenotype
is
striking
with
thick
hyperkeratotic
plate-like
scales
with
deep
dermal
fissures
,
severe
ectropion
and
eclabium
,
among
other
findings
.
Over
the
first
months
of
life
,
the
hyperkeratotic
covering
is
shed
,
revealing
a
diffusely
erythematous
,
scaly
epidermis
,
which
persists
for
the
remainder
of
the
patient
's
life
.
Although
HI
infants
have
historically
succumbed
in
the
perinatal
period
related
to
their
profound
epidermal
compromise
,
the
prognosis
of
HI
infants
has
vastly
improved
over
the
past
20
years
.
Here
,
we
report
a
case
of
HI
treated
with
acitretin
,
focusing
on
the
multi-faceted
management
of
the
disease
in
the
inpatient
setting
.
A
review
of
the
literature
of
the
management
of
HI
during
the
perinatal
period
is
also
presented
.
Diseases
Validation
Diseases presenting
"hi is characterized by diffuse epidermal hyperkeratinization and defective desquamation"
symptom
harlequin ichthyosis
lamellar ichthyosis
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