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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
"skin lesions"
symptom
child syndrome
cowden syndrome
cutaneous mastocytosis
cystinuria
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
erdheim-chester disease
erythropoietic protoporphyria
familial mediterranean fever
focal myositis
gm1 gangliosidosis
heparin-induced thrombocytopenia
hirschsprung disease
junctional epidermolysis bullosa
lamellar ichthyosis
liposarcoma
lymphangioleiomyomatosis
malignant atrophic papulosis
oligodontia
omenn syndrome
papillon-lefèvre syndrome
primary effusion lymphoma
proteus syndrome
severe combined immunodeficiency
sneddon syndrome
waldenström macroglobulinemia
werner syndrome
wiskott-aldrich syndrome
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