Rare Diseases Symptoms Automatic Extraction
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[Hereditary photodermatoses].
[kindler syndrome]
Hereditary
photodermatoses
are
characterized
by
an
increased
photosensitivity
caused
by
an
inherited
single
gene
defect
.
With
few
exceptions
,
they
manifest
in
early
childhood
,
reveal
heterogeneous
clinical
symptoms
,
and
are
difficult
to
treat
.
Although
these
diseases
are
rare
,
it
is
very
important
to
make
an
accurate
diagnosis
on
the
basis
of
clinical
symptoms
,
specific
diagnostic
tests
,
and
direct
DNA
analysis
.
We
review
the
spectrum
of
inherited
photodermatoses
,
including
porphyria
cutanea
tarda
,
erythropoietic
protoporphyria
,
actinic
prurigo
,
Kindler
syndrome
,
and
disorders
associated
with
a
defect
in
DNA
repair
,
including
xeroderma
pigmentosum
,
trichothiodystrophy
,
Cockayne
syndrome
,
and
Bloom
syndrome
.
Early
diagnosis
may
prevent
complications
associated
with
prolonged
unprotected
exposure
to
sunlight
and
makes
it
possible
to
offer
genetic
counseling
and
,
when
indicated
,
prenatal
diagnosis
to
families
at
risk
for
these
rare
heritable
disorders
.
Diseases
Validation
Diseases presenting
"specific diagnostic tests"
symptom
kindler syndrome
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