Rare Diseases Symptoms Automatic Extraction
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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
"sepsis"
symptom
acute rheumatic fever
carcinoma of the gallbladder
congenital diaphragmatic hernia
cushing syndrome
cystinuria
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
focal myositis
harlequin ichthyosis
heparin-induced thrombocytopenia
hirschsprung disease
homocystinuria without methylmalonic aciduria
inclusion body myositis
junctional epidermolysis bullosa
kindler syndrome
lamellar ichthyosis
locked-in syndrome
malignant atrophic papulosis
megacystis-microcolon-intestinal hypoperistalsis syndrome
monosomy 21
primary effusion lymphoma
primary hyperoxaluria type 1
pyomyositis
scrub typhus
systemic capillary leak syndrome
typhoid
This symptom has already been validated