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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
"nausea"
symptom
cadasil
carcinoma of the gallbladder
cholangiocarcinoma
cutaneous mastocytosis
dedifferentiated liposarcoma
erythropoietic protoporphyria
homocystinuria without methylmalonic aciduria
oral submucous fibrosis
proteus syndrome
scrub typhus
systemic capillary leak syndrome
typhoid
von hippel-lindau disease
This symptom has already been validated