Rare Diseases Symptoms Automatic Extraction
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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
"common disorder"
symptom
aniridia
congenital adrenal hyperplasia
cutaneous mastocytosis
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
familial hypocalciuric hypercalcemia
sneddon syndrome
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