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
"erythroderma"
symptom
child syndrome
cutaneous mastocytosis
harlequin ichthyosis
lamellar ichthyosis
omenn syndrome
This symptom has already been validated