Rare Diseases Symptoms Automatic Extraction
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A random Abstract
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A case of harlequin ichthyosis treated with isotretinoin.
[lamellar ichthyosis]
Harlequin
ichthyosis
is
a
rare
congenital
ichthyosis
classified
under
the
category
of
Autosomal
Recessive
Congenital
Ichthyoses
,
which
also
include
lamellar
ichthyosis
and
congenital
ichthyosiform
erythroderma
.
It
is
caused
by
functional
null
mutations
in
the
ABCA
12
gene
,
a
keratinocyte
lipid
transporter
associated
with
lamellar
granule
formation
.
Patients
have
a
classic
clinical
presentation
at
delivery
and
need
neonatal
intensive
care
treatment
to
maximize
their
chances
of
survival
.
Early
oral
retinoid
therapy
has
been
shown
to
increase
survival
in
patients
with
harlequin
ichthyosis
,
and
we
present
a
case
of
a
9
-
month
-old
male
with
this
condition
who
has
been
treated
with
isotretinoin
since
day
7
of
life
.
Diseases
Validation
Diseases presenting
"classic clinical presentation"
symptom
harlequin ichthyosis
lamellar ichthyosis
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