Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
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
"skin biopsies"
symptom
cadasil
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
fabry disease
harlequin ichthyosis
junctional epidermolysis bullosa
kindler syndrome
malignant atrophic papulosis
neonatal adrenoleukodystrophy
omenn syndrome
pyruvate dehydrogenase deficiency
sneddon syndrome
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom