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[Clinical presentation and etiology of ichthyoses. Overview of the new nomenclature and classification].
[lamellar ichthyosis]
Ichthyoses
comprise
a
heterogeneous
group
of
Mendelian
disorders
of
cornification
(
MEDOC
)
affecting
the
entire
skin
and
characterized
by
hyperkeratosis
and
/
or
scaling
.
The
genetic
basis
of
almost
all
ichthyosis
forms
has
been
elucidated
.
In
2009
,
the
worldwide
first
Ichthyosis
Consensus
Classification
was
approved
.
Its
nosology
is
based
on
the
clinical
presentation
and
reflects
recent
pathogenic
aspects
.
It
distinguishes
basically
between
non-syndromic
and
syndromic
ichthyoses
.
The
term
ARCI
/
autosomal
recessive
congenital
ichthyosis
represents
the
umbrella
for
harlequin
ichthyosis
,
lamellar
ichthyosis
and
congenital
ichthyosiform
erythroderma
.
Ichthyoses
due
to
keratin
mutations
are
referred
to
as
KPI
/
keratinopathic
ichthyosis
and
include
epidermolytic
ichthyosis
(
EI
)
and
superficial
epidermolytic
ichthyosis
(
SEI
)
.
In
Germany
the
Network
for
Ichthyoses
and
Related
Keratinization
Disorders
(
NIRK
)
and
the
patient
organization
Selbsthilfe
Ichthyose
e
.
V
.
provide
contact
points
for
diagnostic
and
therapeutic
questions
.
Diseases
Validation
Diseases presenting
"lamellar ichthyosis and congenital ichthyosiform erythroderma"
symptom
harlequin ichthyosis
lamellar ichthyosis
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