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Encephalocraniocutaneous lipomatosis.
[proteus syndrome]
Encephalocraniocutaneous
lipomatosis
(
ECCL
)
is
a
sporadically
occurring
neurocutaneous
disorder
of
unknown
aetiology
.
It
has
repeatedly
been
discussed
as
a
localised
form
of
Proteus
syndrome
.
In
2006
,
the
first
large
series
of
patients
was
reported
,
and
diagnostic
criteria
were
proposed
.
To
better
define
the
phenotypic
spectrum
and
natural
history
of
ECCL
and
to
revise
diagnostic
criteria
.
54
patients
with
ECCL
were
reviewed
.
Eye
anomalies
(
mainly
choristomas
)
and
skin
lesions
(
non-
scarring
alopecia
,
naevus
psiloliparus
,
subcutaneous
fatty
masses
,
nodular
skin
tags
,
aplastic
scalp
defects
)
may
be
unilateral
or
bilateral
and
occur
in
a
consistent
pattern
.
Central
nervous
system
anomalies
consist
of
intracranial
and
intraspinal
lipomas
,
congenital
abnormalities
of
the
meninges
,
and
putative
focal
vascular
defects
resulting
in
highly
asymmetrical
changes
.
About
two
-thirds
of
patients
have
a
normal
development
or
mild
retardation
only
,
and
half
of
them
have
seizures
.
No
correlation
between
the
extent
of
central
nervous
system
anomalies
and
neurological
features
could
be
established
.
Aortic
coarctation
,
progressive
bone
cysts
and
jaw
tumours
may
be
associated
.
Revised
diagnostic
criteria
are
proposed
.
ECCL
is
considered
to
differ
from
Proteus
syndrome
in
particular
,
but
oculoectodermal
syndrome
is
possibly
a
mild
variant
.
Pathogenetically
,
mosaicism
for
a
mutated
autosomal
gene
involved
in
multiple
mesenchymal
tumours
and
vasculogenesis
,
with
or
without
a
second
hit
event
,
is
discussed
.
Diseases
Validation
Diseases presenting
"scalp defects"
symptom
proteus syndrome
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