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Lamellar ichthyosis with genu valgum: unfolding the link.
[lamellar ichthyosis]
We
describe
a
case
of
lamellar
ichthyosis
with
bilateral
genu
valgum
.
The
association
of
genu
valgum
with
congenital
ichthyosis
is
rare
.
Our
patient
,
a
22
-
year
-old
girl
,
had
lamellar
ichthyosis
and
was
born
with
a
collodion
membrane
.
She
developed
progressive
valgus
deformity
of
the
knees
of
5
years
duration
associated
with
difficulty
in
walking
.
On
evaluation
,
she
had
generalised
scaly
skin
lesions
along
with
bilateral
genu
valgum
and
biochemical
evidence
of
vitamin
D
deficiency
.
Skin
serves
as
an
important
site
for
vitamin
D
synthesis
and
thus
skeletal
deformities
secondary
to
vitamin
D
deficiency
may
occur
in
cases
of
congenital
ichthyosis
,
causing
a
diagnostic
dilemma
due
to
the
unusual
association
.
This
case
serves
as
a
reminder
that
clinicians
need
to
be
aware
of
such
an
association
in
order
to
prevent
,
appropriately
diagnose
and
adequately
treat
the
rare
case
of
congenital
ichthyosis
with
rickets
and
osteomalacia
.
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