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Kindler syndrome: a case report and proposal for clinical diagnostic criteria.
[kindler syndrome]
Kindler
syndrome
is
a
rare
hereditary
disorder
characterized
by
acral
blister
formation
in
infancy
and
childhood
,
progressive
poikiloderma
,
cutaneous
atrophy
and
increased
photosensitivity
.
Since
it
was
first
described
in
1954
,
less
than
100
cases
have
been
reported
worldwide
.
Recently
it
has
been
reported
that
Kindler
syndrome
is
the
first
genodermatosis
caused
by
a
defect
in
the
actin-extracellular
matrix
linkage
,
and
the
gene
was
mapped
to
chromosome
20
p
12
.
3
.
The
clinical
features
of
the
syndrome
have
been
annotated
by
different
authors
but
the
definite
of
criteria
to
confirm
the
diagnosis
have
not
yet
been
generally
accepted
.
We
report
a
case
of
Kindler
syndrome
that
presents
a
full
spectrum
of
clinical
manifestations
,
and
we
propose
a
set
of
clinical
criteria
for
diagnosis
.
Diseases
Validation
Diseases presenting
"rare hereditary disorder"
symptom
benign recurrent intrahepatic cholestasis
child syndrome
erythropoietic protoporphyria
kindler syndrome
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