Rare Diseases Symptoms Automatic Extraction
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Small-fibre neuropathies and skin: news and perspectives for dermatologists.
[fabry disease]
Small
-fibre
neuropathies
(
SFNs
)
can
be
defined
as
diseases
of
small
nerve
fibres
.
Because
their
symptoms
are
mainly
located
in
the
skin
in
the
initial
stages
,
dermatologists
may
frequently
be
confronted
with
these
diseases
.
Moreover
,
skin
biopsies
and
the
subsequent
measurement
of
intraepidermal
nerve
fibre
density
have
become
a
widely
accepted
technique
to
investigate
the
structural
integrity
of
small
nerve
fibres
.
The
pathogenesis
of
injury
to
small
nerve
fibres
is
poorly
understood
.
It
probably
depends
on
the
cause
.
SCN
9
A
-
gene
variants
have
been
reported
.
Diabetes
mellitus
is
one
of
the
main
causes
of
SFNs
.
Some
causes
of
SFNs
are
very
well-known
to
dermatologists
:
Gougerot-
Sjögren
syndrome
,
lupus
,
sarcoidosis
and
Fabry
disease
.
We
also
discuss
erythermalgia
,
prurigo
nodularis
,
nummular
eczema
,
burning
mouth
syndrome
and
sensitive
skin
as
SFNs
.
Diseases
Validation
Diseases presenting
"diabetes mellitus"
symptom
acute rheumatic fever
adrenal incidentaloma
adrenomyeloneuropathy
allergic bronchopulmonary aspergillosis
alpha-thalassemia
child syndrome
cholangiocarcinoma
cohen syndrome
congenital adrenal hyperplasia
congenital toxoplasmosis
cowden syndrome
cushing syndrome
cystinuria
esophageal adenocarcinoma
esophageal carcinoma
esophageal squamous cell carcinoma
fabry disease
familial hypocalciuric hypercalcemia
malignant atrophic papulosis
neuralgic amyotrophy
pyomyositis
sneddon syndrome
typhoid
werner syndrome
wolf-hirschhorn syndrome
This symptom has already been validated