Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Lamellar ichthyosis with rickets.
[lamellar ichthyosis]
Lamellar
ichthyosis
(
LI
)
is
a
rare
genetic
disorder
with
autosomal
recessive
inheritance
.
It
is
equally
seen
in
both
sexes
and
usually
manifests
at
birth
.
The
child
presents
as
a
collodion
baby
.
The
erythema
is
minimal
or
absent
;
but
when
present
,
it
is
maximum
on
the
face
.
The
scaling
is
generalized
,
accentuated
on
lower
extremities
and
flexural
areas
.
Rickets
is
a
condition
in
which
there
is
softening
of
bones
leading
to
fractures
and
deformities
.
It
is
caused
by
vitamin
D
deficiency
&
lack
of
adequate
calcium
in
diet
.
Children
,
6
to
24
months
of
age
,
are
at
a
higher
risk
due
to
rapidly
growing
bones
.
The
association
between
various
types
of
ichthyoses
and
rickets
is
well
documented
.
We
report
a
case
of
lamellar
ichthyosis
with
rickets
in
a
14
-
year
-old
girl
from
our
part
of
the
world
.
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