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Harlequin ichthyosis: A medico legal case report & review of literature with peculiar findings in autopsy.
[harlequin ichthyosis]
Ichthyosis
fetalis
or
Harlequin
ichthyosis
is
an
extremely
severe
and
fatal
hereditary
skin
disorder
with
an
autosomal
recessive
inheritance
.
It
is
distinctive
because
of
its
remarkable
clinical
appearance
which
includes
epidermal
keratinization
,
hypoplasia
of
fingers
or
nails
,
malformation
of
ear
and
nose
and
incompatibility
with
life
.
This
report
describes
a
case
of
Harlequin
ichthyosis
along
with
detailed
autopsy
findings
,
which
manifested
the
suspended
animation
in
the
early
hours
after
delivery
and
showing
a
peculiar
malformation
of
the
cerebral
hemispheres
.
To
the
best
of
the
knowledge
,
this
may
be
the
first
report
of
Harlequin
ichthyosis
in
the
forensic
literature
describing
mal
development
of
cerebral
hemispheres
and
suspended
animation
in
a
case
of
Harlequin
Ichthyosis
.
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