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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
"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