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Ichthyosis congenita, harlequin fetus type: a case report.
[harlequin ichthyosis]
Ichthyosis
is
a
very
heterogeneous
family
of
skin
disorders
with
harlequin
ichthyosis
being
the
most
severe
genetic
form
.
It
is
a
rare
autosomal
recessive
condition
,
characterized
by
dry
,
severely
thickened
skin
with
large
plates
of
hyperkeratotic
scale
,
separated
by
deep
fissures
.
Infants
are
very
susceptible
to
metabolic
abnormalities
and
infections
.
They
usually
do
not
survive
for
very
long
,
but
several
long
term
survivals
have
been
noted
.
The
vast
majority
of
affected
individuals
are
homozygous
for
mutations
in
the
ABCA
12
gene
,
which
cause
a
deficiency
of
the
epidermal
lipid
transporter
,
resulting
in
hyperkeratosis
and
abnormal
barrier
function
.
We
report
a
case
of
a
newborn
with
harlequin
ichthyosis
,
born
to
unrelated
parents
,
who
had
a
favorable
evolution
with
topical
treatment
and
intensive
care
.
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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