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Self-healing collodion membrane and mild nonbullous congenital ichthyosiform erythroderma due to 2 novel mutations in the ALOX12B gene.
[harlequin ichthyosis]
Collodion
phenotype
is
a
term
applied
to
the
condition
affecting
a
newborn
involving
a
parchmentlike
membrane
covering
the
whole
body
surface
(
collodion
membrane
)
.
This
presentation
is
common
to
several
different
forms
of
autosomal
recessive
congenital
ichthyoses
,
including
nonbullous
congenital
ichthyosiform
erythroderma
(
NCIE
)
,
lamellar
ichthyosis
(
LI
)
,
and
harlequin
ichthyosis
(
HI
)
.
Recent
years
have
seen
considerable
advances
in
our
understanding
of
the
molecular
basis
of
autosomal
recessive
forms
of
congenital
ichthyosis
.
Several
genetic
loci
have
been
identified
for
LI
and
NCIE
.
We
describe
the
clinical
and
molecular
features
of
2
cases
of
self-healing
newborns
of
collodion
phenotype
developing
mild
NCIE
.
A
dramatic
improvement
of
the
skin
was
observed
in
the
first
few
weeks
after
birth
in
both
cases
.
The
molecular
analysis
of
the
ALOX
12
B
gene
demonstrated
that
both
patients
were
compound
heterozygous
for
previously
unreported
mutations
.
Both
patients
were
compound
heterozygous
for
novel
ALOX
12
B
mutations
,
underscoring
the
concept
that
mutations
in
at
least
2
different
genes
,
ALOX
12
B
and
TGM
1
,
may
result
in
this
unusual
clinical
phenotype
.
Diseases
Validation
Diseases presenting
"previously unreported mutations"
symptom
benign recurrent intrahepatic cholestasis
harlequin ichthyosis
krabbe disease
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