Rare Diseases Symptoms Automatic Extraction
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The clinical spectrum of nonbullous congenital ichthyosiform erythroderma and lamellar ichthyosis.
[harlequin ichthyosis]
Until
about
20
years
ago
,
the
term
lamellar
ichthyosis
(
LI
)
represented
all
nonbullous
autosomal
recessive
ichthyoses
except
for
harlequin
ichthyosis
and
ichthyosis
syndromes
.
Since
the
1980
s
,
nonbullous
autosomal
recessive
ichthyoses
have
been
divided
into
two
major
clinical
entities
,
nonbullous
congenital
ichthyosiform
erythroderma
(
NBCIE
)
and
LI
.
The
nature
of
scaling
and
intensity
of
erythroderma
are
important
clinical
features
that
distinguish
between
NBCIE
and
LI
.
However
,
a
considerable
number
of
cases
show
an
intermediate
phenotype
between
the
two
classic
clinical
features
.
Histologically
,
parakeratosis
and
inflammatory
cell
infiltration
are
seen
more
frequently
in
NBCIE
than
in
LI
and
the
stratum
corneum
is
usually
thicker
in
LI
than
in
NBCIE
.
However
,
neither
histopathological
findings
nor
ultrastructural
features
seem
to
help
clearly
distinguish
between
NBCIE
and
LI
.
Mutations
in
any
of
the
three
known
causative
genes
,
TGM
1
,
ALOXE
3
or
ALOX
12
B
,
can
lead
either
to
NBCIE
or
LI
.
Candidate
genes
specific
to
either
NBCIE
or
LI
alone
have
not
been
identified
.
Based
on
these
facts
,
it
might
be
better
to
consider
NBCIE
and
LI
as
variations
of
a
single
keratinization
disorder
,
although
the
classification
of
these
autosomal
recessive
congenital
ichthyosis
patients
into
NBCIE
or
LI
depending
on
their
clinical
features
is
still
useful
for
practical
patient
management
.
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