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Erythropoietic protoporphyria: a case report and literature review.
[erythropoietic protoporphyria]
Erythropoietic
protoporphyria
is
considered
a
rare
disease
overall
,
but
in
children
is
the
most
common
form
of
porphyria
,
and
certainly
the
most
common
type
of
erythropoietic
porphyria
.
Despite
this
fact
,
erythropoietic
protoporphyria
is
a
disease
that
has
been
known
to
evade
or
at
least
delay
diagnosis
,
leading
to
unnecessary
suffering
by
the
patient
.
Given
the
distress
it
may
cause
a
patient
and
his
or
her
family
as
well
as
the
potential
complications
of
this
disease
,
the
importance
of
maintaining
a
heightened
awareness
when
presented
with
a
child
complaining
of
photosensitivity
can
not
be
overstated
.
This
case
report
will
review
the
important
clinical
indicators
,
pathogenesis
,
histology
,
diagnosis
,
management
,
and
treatment
of
this
disease
,
so
that
affected
children
will
no
longer
have
to
play
"
hide
and
seek
"
when
diagnosed
with
this
sun-sensitive
disease
.
Diseases
Validation
Diseases presenting
"this disease"
symptom
achondroplasia
cadasil
cystinuria
erythropoietic protoporphyria
familial mediterranean fever
proteus syndrome
scrub typhus
systemic capillary leak syndrome
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