Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Autosomal recessive congenital ichthyosis.
[harlequin ichthyosis]
The
term
autosomal
recessive
congenital
ichthyosis
(
ARCI
)
refers
to
a
group
of
rare
disorders
of
keratinization
classified
as
nonsyndromic
forms
of
ichthyosis
.
This
group
was
traditionally
divided
into
lamellar
ichthyosis
(
LI
)
and
congenital
ichthyosiform
erythroderma
(
CIE
)
but
today
it
also
includes
harlequin
ichthyosis
,
self-healing
collodion
baby
,
acral
self-healing
collodion
baby
,
and
bathing
suit
ichthyosis
.
The
combined
prevalence
of
LI
and
CIE
has
been
estimated
at
1
case
per
138
000
to
300
000
population
.
In
some
countries
or
regions
,
such
as
Norway
and
the
coast
of
Galicia
,
the
prevalence
may
be
higher
due
to
founder
effects
.
ARCI
is
genetically
highly
heterogeneous
and
has
been
associated
with
6
genes
to
date
:
TGM
1
,
ALOXE
3
,
ALOX
12
B
,
NIPAL
4
,
CYP
4
F
2
2
,
and
ABCA
12
.
In
this
article
,
we
review
the
current
knowledge
on
ARCI
,
with
a
focus
on
clinical
,
histological
,
ultrastructural
,
genetic
,
molecular
,
and
treatment-related
aspects
.
Diseases
Validation
Diseases presenting
"congenital ichthyosis"
symptom
aniridia
harlequin ichthyosis
lamellar ichthyosis
This symptom has already been validated