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
"early diagnosis"
symptom
achondroplasia
acute rheumatic fever
adrenal incidentaloma
adrenomyeloneuropathy
alexander disease
allergic bronchopulmonary aspergillosis
aromatase deficiency
carcinoma of the gallbladder
cholangiocarcinoma
classical phenylketonuria
coats disease
cohen syndrome
congenital adrenal hyperplasia
congenital diaphragmatic hernia
congenital toxoplasmosis
cowden syndrome
cushing syndrome
cutaneous mastocytosis
cystinuria
dentin dysplasia
dentinogenesis imperfecta
dracunculiasis
erdheim-chester disease
erythropoietic protoporphyria
esophageal carcinoma
esophageal squamous cell carcinoma
fabry disease
familial hypocalciuric hypercalcemia
familial mediterranean fever
gm1 gangliosidosis
hirschsprung disease
holt-oram syndrome
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
inclusion body myositis
kabuki syndrome
kallmann syndrome
kindler syndrome
krabbe disease
locked-in syndrome
monosomy 21
neuralgic amyotrophy
oculocutaneous albinism
oligodontia
omenn syndrome
oral submucous fibrosis
papillon-lefèvre syndrome
phenylketonuria
primary effusion lymphoma
primary hyperoxaluria type 1
proteus syndrome
pyomyositis
pyruvate dehydrogenase deficiency
scrub typhus
severe combined immunodeficiency
sneddon syndrome
systemic capillary leak syndrome
thoracic outlet syndrome
triple a syndrome
typhoid
von hippel-lindau disease
wiskott-aldrich syndrome
wolf-hirschhorn syndrome
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