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[Erythropoietic protoporphyria. A rare differential diagnosis among photosensitive diseases].
[erythropoietic protoporphyria]
A
31
-
year
-old
woman
presented
with
recurrent
swelling
,
burning
,
prickling
and
itching
of
the
arms
and
the
hands
which
appeared
after
UV
exposure
in
the
summer
.
Simultaneously
she
often
had
chills
,
malaise
,
nausea
and
circulatory
problems
lasting
for
hours
.
She
did
not
have
erythema
or
wheals
.
She
had
been
seen
by
a
number
of
specialties
but
to
no
avail
.
Her
deceased
mother
suffered
from
the
same
symptoms
.
On
presentation
she
had
no
skin
lesions
.
Laboratory
testing
showed
a
dramatic
increase
in
total
protoporphyrin
,
enabling
us
to
diagnose
erythropoietic
protoporphyria
.
This
is
a
rare
,
genetic
metabolic
disturbance
in
hematopoiesis
,
whose
true
prevalence
is
probably
underestimated
.
Because
of
abnormal
or
absent
function
of
ferrochelatase
,
protoporphyrin
accumulates
in
blood
,
erythrocytes
and
tissue
usually
causing
photosensitivity
as
the
first
clinical
symptom
.
The
prognosis
depends
on
the
severity
of
liver
involvement
.
Because
of
the
marked
restrictions
on
activity
,
especially
in
avoiding
UV
exposition
,
the
quality
of
life
of
the
patients
and
their
families
are
strongly
influenced
.
The
odyssey
of
our
patient
and
her
mother
in
finding
a
diagnosis
demonstrates
impressively
that
the
EPP
is
an
important
photosensitizing
disease
which
must
not
be
forgotten
.
Diseases
Validation
Diseases presenting
"skin lesions"
symptom
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cowden syndrome
cutaneous mastocytosis
cystinuria
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
erdheim-chester disease
erythropoietic protoporphyria
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wiskott-aldrich syndrome
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