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Degos disease: a C5b-9/interferon-α-mediated endotheliopathy syndrome.
[malignant atrophic papulosis]
Degos
disease
is
a
lethal
small
vessel
angiopathy
targeting
the
skin
,
gastrointestinal
tract
,
and
central
nervous
system
,
potentially
developing
in
the
setting
of
known
autoimmune
disease
,
although
forme
fruste
primary
variants
exist
.
Its
pathogenetic
basis
is
unknown
.
Four
cases
of
Degos
disease
were
encountered
in
archival
material
,
representing
2
men
,
ages
38
and
43
years
,
and
2
females
,
ages
48
and
2
years
;
3
patients
died
of
disease
.
All
had
characteristic
skin
lesions
with
gastrointestinal
involvement
;
other
affected
organs
included
brain
in
one
and
pericardium
and
pleura
in
another
.
Skin
biopsies
showed
pauci-
inflammatory
thrombogenic
microangiopathy
with
endothelial
cell
injury
.
Extracutaneous
organs
demonstrated
fibromucinous
occlusive
arteriopathy
.
Prominent
vascular
C
5
b
-
9
was
seen
in
the
skin
,
gastrointestinal
tract
,
and
brain
.
All
cases
had
evidence
of
high
expression
of
interferon-α
(
based
on
tissue
expression
of
MXA
,
a
type
I
interferon-inducible
protein
)
,
endothelial
tubuloreticular
inclusions
,
and
an
interferon
gene
signature
in
peripheral
blood
mononuclear
cells
.
The
MXA
expression
paralleled
the
pattern
of
C
5
b
-
9
deposition
.
Degos
disease
is
a
distinct
vascular
injury
syndrome
whereby
a
dysregulated
interferon-α
response
in
concert
with
membranolytic
attack
complex
deposition
may
contribute
to
the
unique
vascular
changes
.
Understanding
the
pathophysiology
of
the
disease
process
could
lead
to
more
directed
therapies
,
including
terminal
complement
inhibition
with
agents
such
as
eculizumab
.
Diseases
Validation
Diseases presenting
"gastrointestinal tract"
symptom
benign recurrent intrahepatic cholestasis
carcinoma of the gallbladder
cowden syndrome
cutaneous mastocytosis
dedifferentiated liposarcoma
epidermolysis bullosa simplex
erdheim-chester disease
esophageal adenocarcinoma
esophageal carcinoma
familial mediterranean fever
hirschsprung disease
malignant atrophic papulosis
megacystis-microcolon-intestinal hypoperistalsis syndrome
proteus syndrome
pyomyositis
triple a syndrome
waldenström macroglobulinemia
well-differentiated liposarcoma
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