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Ichthyosis in the Neonatal Setting.
[harlequin ichthyosis]
There
exists
a
group
of
rare
,
inherited
scaly
skin
disorders
,
generally
termed
"
ichthyosis
,
"
that
can
be
evident
in
the
infant
at
the
time
of
birth
.
Phenotypes
for
this
disorder
span
the
gamut
of
severity
and
may
pose
complex
challenges
to
the
healthcare
provider
.
This
article
explores
the
3
most
common
nonsyndromic
forms
of
ichthyosis
seen
in
neonates
as
follows
:
X-
linked
recessive
,
lamellar
,
and
bullous
congenital
ichthyosiform
erythroderma
.
Moreover
,
harlequin
ichthyosis
,
a
lamellar
subtype
,
is
highlighted
for
being
the
most
severe
,
clinically
problematic
,
and
often
lethal
form
of
the
disorder
.
A
description
of
each
of
these
types
and
their
incidence
is
included
,
followed
by
an
explanation
of
the
genetic
mutations
causing
them
.
The
phenotypes
and
natural
history
are
reviewed
,
as
is
expected
management
of
the
disorder
throughout
the
patient
's
lifetime
.
Genetic
counseling
and
the
risks
of
recurrence
are
explored
.
Finally
,
considerations
for
the
neonatal
nurse
practitioner
charged
with
caring
for
these
patients
,
including
specific
recommendations
for
care
in
the
clinical
setting
,
are
discussed
.
Diseases
Validation
Diseases presenting
"skin disorders"
symptom
carcinoma of the gallbladder
cutaneous mastocytosis
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
erythropoietic protoporphyria
harlequin ichthyosis
junctional epidermolysis bullosa
kindler syndrome
lamellar ichthyosis
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