Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
First case of dizygotic twins with lamellar ichthyosis in Puerto Rico.
[lamellar ichthyosis]
Lamellar
Ichthyosis
is
a
rare
condition
requiring
thickened
collodion-like
skin
for
clinical
diagnosis
.
These
infants
have
abnormal
epidermal
barrier
,
which
leads
to
serious
complications
.
It
may
present
with
extensive
skin
lesions
and
should
be
considered
a
diagnostic
possibility
in
sick
neonates
.
Recent
studies
have
identified
a
condition
characterized
by
deficiency
of
the
interleukin-
1
receptor
antagonist
(
DIRA
)
resembling
Ichthyosis
.
We
report
dizygotic
twins
that
presented
lamellar
ichthyosis
.
Twin
#
1
had
a
neonatal
period
complicated
with
sepsis
,
fungemia
and
urinary
tract
infection
.
Twin
#
2
had
sepsis
,
urinary
tract
infection
and
conjunctivitis
.
We
tested
the
parents
and
one
patient
for
DIRA
.
Tests
were
negative
.
To
our
knowledge
,
this
is
the
first
case
of
dizygotic
twins
that
presented
with
lamellar
ichthyosis
in
Puerto
Rico
.
Physicians
should
include
DIRA
in
the
differential
diagnosis
of
skin
lesions
in
newborns
.
Diseases
Validation
Diseases presenting
"neonatal period"
symptom
alexander disease
alpha-thalassemia
benign recurrent intrahepatic cholestasis
congenital adrenal hyperplasia
congenital diaphragmatic hernia
congenital toxoplasmosis
cutaneous mastocytosis
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
harlequin ichthyosis
hirschsprung disease
homocystinuria without methylmalonic aciduria
junctional epidermolysis bullosa
kabuki syndrome
kallmann syndrome
kindler syndrome
lamellar ichthyosis
megacystis-microcolon-intestinal hypoperistalsis syndrome
monosomy 21
neonatal adrenoleukodystrophy
neuralgic amyotrophy
pyruvate dehydrogenase deficiency
zellweger syndrome
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom