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The pathogenesis of severe congenital ichthyosis of the neonate.
[harlequin ichthyosis]
Severe
congenital
ichthyosis
of
the
neonate
include
several
major
subtypes
,
i
.
e
.
harlequin
ichthyosis
,
lamellar
ichthyosis
(
LI
)
,
and
congenital
ichthyosiform
erythroderma
.
Knowledge
of
the
pathogenetic
mechanisms
is
significant
for
the
precise
diagnosis
,
treatment
,
genetic
counseling
and
prenatal
diagnosis
.
This
article
reviews
recent
advances
in
studies
on
genetic
defects
and
pathogenetic
mechanisms
of
these
severe
congenital
ichthyosis
and
,
in
addition
,
discuss
the
feasibility
and
methods
of
their
prenatal
diagnosis
.
Recently
,
reduced
activity
of
the
serine
/
threonine
protein
phosphatase
in
keratinocytes
was
suggested
to
be
the
cause
of
harlequin
ichthyosis
.
In
some
families
of
LI
,
transglutaminase
1
gene
mutations
were
identified
as
causative
genetic
defects
and
transglutaminase
1
is
thought
to
be
one
of
the
candidate
molecules
for
non-
bullous
congenital
ichthyosiform
erythroderma
(
NBCIE
)
.
Genotype
/
phenotype
correlation
in
bullous
congenital
ichthyosis
is
now
being
clarified
.
Mutations
within
the
rod
domain
,
not
in
the
beginning
or
the
end
of
the
rod
domain
,
of
keratin
10
were
reported
in
annular
epidermolytic
ichthyosis
(
AEI
)
,
the
distinct
subtype
of
bullous
congenital
ichthyosiform
erythroderma
.
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