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[Clinical presentation and etiology of ichthyoses. Overview of the new nomenclature and classification].
[harlequin 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
"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