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Primary hyperoxaluria type 1 with systemic calcium oxalate deposition: case report and literature review.
[primary hyperoxaluria type 1]
We
present
an
adult
autopsy
case
of
primary
hyperoxaluria
type
1
.
Diagnosis
was
established
with
skin
biopsy
and
subsequent
genetic
analysis
one
month
prior
to
death
.
At
autopsy
,
calcium
oxalate
crystals
refringent
to
polarized
light
were
found
systemically
.
Interestingly
,
however
,
calcium
oxalate
crystals
were
not
identified
in
the
bone
.
Additionally
,
we
have
included
a
review
of
the
literature
for
previous
autopsy
cases
,
presentations
,
diagnosis
,
complications
,
and
treatment
of
this
rare
genetic
systemic
process
.
Diseases
Validation
Diseases presenting
"skin biopsy"
symptom
adrenomyeloneuropathy
cadasil
cutaneous mastocytosis
dentinogenesis imperfecta
dracunculiasis
epidermolysis bullosa simplex
erdheim-chester disease
erythropoietic protoporphyria
fabry disease
harlequin ichthyosis
inclusion body myositis
junctional epidermolysis bullosa
kindler syndrome
lamellar ichthyosis
malignant atrophic papulosis
monosomy 21
oligodontia
primary effusion lymphoma
primary hyperoxaluria type 1
pyruvate dehydrogenase deficiency
sneddon syndrome
waldenström macroglobulinemia
x-linked adrenoleukodystrophy
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