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Prevalence of autosomal recessive congenital ichthyosis: a population-based study using the capture-recapture method in Spain.
[lamellar ichthyosis]
Previous
reports
on
the
prevalence
of
autosomal
recessive
congenital
ichthyosis
(
ARCI
)
were
based
on
single
source
data
,
such
as
lists
of
members
in
a
patient
association
.
These
sources
are
likely
to
be
incomplete
.
We
sought
to
describe
the
prevalence
of
ARCI
.
We
obtained
data
from
3
incomplete
sources
(
dermatology
departments
,
a
genetic
testing
laboratory
,
and
the
Spanish
ichthyosis
association
)
and
combined
them
using
the
capture-recapture
method
.
We
identified
144
living
patients
with
ARCI
.
Of
these
,
62
.
5
%
had
classic
lamellar
ichthyosis
and
30
.
6
%
had
congenital
ichthyosiform
erythroderma
.
The
age
distribution
included
fewer
elderly
patients
than
expected
.
The
prevalence
of
ARCI
in
patients
younger
than
10
years
,
the
best
estimate
as
less
subject
to
bias
,
was
16
.
2
cases
per
million
inhabitants
(
95
%
confidence
interval
13
.
3
-
23
.
0
)
.
According
to
the
capture-recapture
model
,
71
%
of
the
patients
were
not
being
followed
up
in
reference
units
,
92
%
did
not
have
a
genetic
diagnosis
,
and
78
%
were
not
members
of
the
ichthyosis
association
.
The
prevalence
of
ARCI
in
Spain
and
findings
related
to
the
Spanish
health
care
system
might
not
be
generalizable
to
other
countries
.
The
prevalence
of
ARCI
is
higher
than
previously
reported
.
Many
patients
are
not
being
followed
up
in
reference
units
,
do
not
have
a
genetic
diagnosis
,
and
are
not
members
of
a
patient
association
,
indicating
room
for
improvement
in
their
care
.
Data
suggesting
a
reduced
number
of
older
patients
might
imply
a
shorter
life
expectancy
and
this
requires
further
study
.
Diseases
Validation
Diseases presenting
"such as lists of members in a patient association"
symptom
lamellar ichthyosis
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