Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Annular elastolytic giant cell granuloma associated to late-onset X-linked dominant protoporphyria.
[erythropoietic protoporphyria]
X-
linked
dominant
protoporphyria
(
XLDPP
)
is
a
genetic
disorder
that
affects
the
synthesis
of
the
heme
group
due
to
an
increase
in
delta-aminolaevulinate
synthase
2
(
ALAS
2
)
enzyme
activity
.
Moreover
,
annular
elastolytic
giant
-cell
granuloma
(
AEGCG
)
is
a
rare
reactive
granulomatous
dermatosis
,
usually
associated
with
actinic
damage
.
An
86
-
year
-old
man
presented
with
edematous-erythematous
lesions
in
photoexposed
areas
of
the
face
and
on
the
dorsum
of
both
hands
.
Protoporphyrin
levels
in
serum
and
feces
were
significantly
elevated
and
a
heterozygous
frameshift
mutation
in
the
exon
11
of
the
ALAS
2
gene
:
c
.
1706
-
1709
del
(
p
.
Glu
569
GlyfsX
24
)
was
identified
.
Concomitantly
,
we
observed
an
annular
plaque
with
raised
borders
on
the
back
of
his
right
hand
,
clinically
and
histologically
compatible
with
a
diagnosis
of
AEGCG
.
Skin
lesions
disappeared
only
upon
use
of
a
physical
sunscreen
.
We
report
two
rare
photodermatoses
in
an
elderly
patient
and
discuss
the
significance
of
dermal
elastic
fiber
damage
induced
by
the
XLDPP
as
a
main
triggering
factor
of
AEGCG
.
