Rare Diseases Symptoms Automatic Extraction
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A random Abstract
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X-linked ichthyosis along with epidermolysis bullosa.
[dystrophic epidermolysis bullosa]
Ichthyoses
are
a
heterogenous
group
of
hereditary
keratinization
disorders
that
share
in
common
the
accumulation
&
shedding
of
large
amounts
of
hyperkeratotic
epidermis
.
Early
reports
of
ichthyosis
in
the
Indian
and
Chinese
literature
date
back
to
several
hundred
years
.
X-
linked
recessive
ichthyosis
(
XLI
)
is
a
common
disorder
of
keratinization
and
affects
males
who
inherit
an
X-
chromosome
having
a
steroid
sulphatase
genetic
mutation
.
In
the
present
communication
we
report
a
case
of
XLI
and
dystrophic
epidermolysis
bullosa
in
the
same
patient
.
To
the
best
of
our
knowledge
it
has
been
reported
only
once
before
.
Diseases
Validation
Diseases presenting
"ichthyosis"
symptom
child syndrome
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
harlequin ichthyosis
hirschsprung disease
junctional epidermolysis bullosa
kallmann syndrome
lamellar ichthyosis
This symptom has already been validated
