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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
"congenital ichthyosis"
symptom
aniridia
harlequin ichthyosis
lamellar ichthyosis
This symptom has already been validated