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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
"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