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Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sorèze 2009.
[lamellar ichthyosis]
Inherited
ichthyoses
belong
to
a
large
,
clinically
and
etiologically
heterogeneous
group
of
mendelian
disorders
of
cornification
,
typically
involving
the
entire
integument
.
Over
the
recent
years
,
much
progress
has
been
made
defining
their
molecular
causes
.
However
,
there
is
no
internationally
accepted
classification
and
terminology
.
We
sought
to
establish
a
consensus
for
the
nomenclature
and
classification
of
inherited
ichthyoses
.
The
classification
project
started
at
the
First
World
Conference
on
Ichthyosis
in
2007
.
A
large
international
network
of
expert
clinicians
,
skin
pathologists
,
and
geneticists
entertained
an
interactive
dialogue
over
2
years
,
eventually
leading
to
the
First
Ichthyosis
Consensus
Conference
held
in
Sor
èze
,
France
,
on
January
23
and
24
,
2009
,
where
subcommittees
on
different
issues
proposed
terminology
that
was
debated
until
consensus
was
reached
.
It
was
agreed
that
currently
the
nosology
should
remain
clinically
based
.
"
Syndromic
"
versus
"
nonsyndromic
"
forms
provide
a
useful
major
subdivision
.
Several
clinical
terms
and
controversial
disease
names
have
been
redefined
:
eg
,
the
group
caused
by
keratin
mutations
is
referred
to
by
the
umbrella
term
,
"
keratinopathic
ichthyosis
"
-
under
which
are
included
epidermolytic
ichthyosis
,
superficial
epidermolytic
ichthyosis
,
and
ichthyosis
Curth-
Macklin
.
"
Autosomal
recessive
congenital
ichthyosis
"
is
proposed
as
an
umbrella
term
for
the
harlequin
ichthyosis
,
lamellar
ichthyosis
,
and
the
congenital
ichthyosiform
erythroderma
group
.
As
more
becomes
known
about
these
diseases
in
the
future
,
modifications
will
be
needed
.
We
have
achieved
an
international
consensus
for
the
classification
of
inherited
ichthyosis
that
should
be
useful
for
all
clinicians
and
can
serve
as
reference
point
for
future
research
.
Diseases
Validation
Diseases presenting
"the first ichthyosis consensus conference held in sorèze"
symptom
harlequin ichthyosis
lamellar ichthyosis
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