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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
"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