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Cutaneous porphyrias part I: epidemiology, pathogenesis, presentation, diagnosis, and histopathology.
[erythropoietic protoporphyria]
The
porphyrias
are
a
group
of
disorders
characterized
by
defects
in
the
heme
biosynthesis
pathway
.
Many
present
with
skin
findings
including
photosensitivity
,
bullae
,
hypertrichosis
,
and
scarring
.
Systemic
symptoms
may
include
abdominal
pain
,
neuropsychiatric
changes
,
anemia
,
and
liver
disease
.
With
advances
in
DNA
analysis
,
researchers
are
discovering
the
underlying
genetic
causes
of
the
porphyrias
,
enabling
family
members
to
be
tested
for
genetic
mutations
.
Here
we
present
a
comprehensive
review
of
porphyria
focusing
on
those
with
cutaneous
manifestations
.
In
Part
I
,
we
have
included
the
epidemiology
,
pathogenesis
,
presentation
,
diagnosis
,
and
histopathology
.
Treatment
and
management
options
will
be
discussed
in
Part
II
.
Diseases
Validation
Diseases presenting
"skin findings"
symptom
cowden syndrome
cystinuria
erythropoietic protoporphyria
oculocutaneous albinism
proteus syndrome
sneddon syndrome
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