Rare Diseases Symptoms Automatic Extraction
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X-linked dominant protoporphyria: a new porphyria.
[erythropoietic protoporphyria]
X-
linked
dominant
protoporphyria
(
XLDPP
)
was
first
reported
in
the
genetics
literature
in
2008
.
It
has
a
phenotype
very
similar
to
erythropoietic
protoporphyria
(
EPP
)
,
but
is
distinguished
from
EPP
by
higher
concentrations
of
erythrocyte
protoporphyrin
(
of
which
a
high
proportion
is
zinc-chelated
)
,
its
apparently
higher
incidence
of
liver
disease
,
and
an
X-
linked
dominant
pattern
of
inheritance
.
Dermatologists
should
understand
how
XLDPP
differs
from
EPP
,
in
order
to
advise
newly
diagnosed
patients
correctly
about
the
genetic
implications
and
the
long
-term
management
strategy
.
We
present
a
case
series
of
XLDPP
to
introduce
this
condition
to
the
dermatology
literature
.
Diseases
Validation
Diseases presenting
"newly diagnosed patients"
symptom
erythropoietic protoporphyria
severe combined immunodeficiency
waldenström macroglobulinemia
werner syndrome
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