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Erythropoietic protoporphyria: spectrum of three cases.
[erythropoietic protoporphyria]
Erythropoietic
protoporphyria
is
a
rare
photodermatosis
of
childhood
,
and
the
diagnosis
can
be
delayed
.
A
deficient
ferrochelatase
enzyme
leads
to
accumulation
of
protoporphyrins
in
the
dermis
,
causing
phototoxic
burning
.
To
report
three
cases
with
great
variability
in
severity
of
symptoms
and
age
at
diagnosis
.
We
discuss
clinical
and
biochemical
findings
,
mutation
analysis
,
and
therapeutic
options
.
We
report
three
cases
with
different
degrees
of
photosensitivity
,
laboratory
results
,
psychosocial
impact
,
and
preventive
and
therapeutic
treatments
.
The
diagnosis
of
erythropoietic
protoporphyria
was
confirmed
by
both
typical
elevation
of
plasma
porphyrins
and
the
discovery
of
a
mutated
FECH
gene
.
Erythropoietic
protoporphyria
should
be
suspected
in
any
cases
of
childhood
photosensitivity
.
Systemic
complications
are
unusual
.
Mutation
analysis
confirms
the
diagnosis
.
Photoprotection
is
the
cornerstone
of
treatment
.
