Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
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
"first report"
symptom
achondroplasia
alexander disease
aniridia
cadasil
canavan disease
child syndrome
cohen syndrome
congenital toxoplasmosis
cowden syndrome
cushing syndrome
cutaneous mastocytosis
cystinuria
dedifferentiated liposarcoma
dentinogenesis imperfecta
dracunculiasis
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
erdheim-chester disease
esophageal squamous cell carcinoma
fabry disease
familial mediterranean fever
focal myositis
harlequin ichthyosis
hirschsprung disease
hodgkin lymphoma, classical
holt-oram syndrome
homocystinuria without methylmalonic aciduria
inclusion body myositis
junctional epidermolysis bullosa
kabuki syndrome
kindler syndrome
krabbe disease
lamellar ichthyosis
liposarcoma
lymphangioleiomyomatosis
monosomy 21
neonatal adrenoleukodystrophy
neuralgic amyotrophy
oculocutaneous albinism
oligodontia
omenn syndrome
pendred syndrome
pleomorphic liposarcoma
primary hyperoxaluria type 1
pyomyositis
pyruvate dehydrogenase deficiency
scrub typhus
severe combined immunodeficiency
sneddon syndrome
triple a syndrome
typhoid
waldenström macroglobulinemia
werner syndrome
wiskott-aldrich syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom