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
"prenatal diagnosis"
symptom
22q11.2 deletion syndrome
achondroplasia
adrenomyeloneuropathy
alexander disease
alpha-thalassemia
aromatase deficiency
benign recurrent intrahepatic cholestasis
cadasil
canavan disease
classical phenylketonuria
cohen syndrome
congenital adrenal hyperplasia
congenital diaphragmatic hernia
congenital toxoplasmosis
cystinuria
dentinogenesis imperfecta
epidermolysis bullosa simplex
harlequin ichthyosis
holt-oram syndrome
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
junctional epidermolysis bullosa
kindler syndrome
krabbe disease
lamellar ichthyosis
megacystis-microcolon-intestinal hypoperistalsis syndrome
monosomy 21
neonatal adrenoleukodystrophy
oculocutaneous albinism
omenn syndrome
phenylketonuria
primary hyperoxaluria type 1
pyruvate dehydrogenase deficiency
severe combined immunodeficiency
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
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