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
.
Diseases
Validation
Diseases presenting
"right hand"
symptom
dystrophic epidermolysis bullosa
erythropoietic protoporphyria
kindler syndrome
monosomy 21
oral submucous fibrosis
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom