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Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum.
[proteus syndrome]
Somatic
mutations
in
the
phosphatidylinositol
/
AKT
/
mTOR
pathway
cause
segmental
overgrowth
disorders
.
Diagnostic
descriptors
associated
with
PIK
3
CA
mutations
include
fibroadipose
overgrowth
(
FAO
)
,
Hemihyperplasia
multiple
Lipomatosis
(
HHML
)
,
Congenital
Lipomatous
Overgrowth
,
Vascular
malformations
,
Epidermal
nevi
,
Scoliosis
/
skeletal
and
spinal
(
CLOVES
)
syndrome
,
macrodactyly
,
and
the
megalencephaly
syndrome
,
Megalencephaly
-
Capillary
malformation
(
MCAP
)
syndrome
.
We
set
out
to
refine
the
understanding
of
the
clinical
spectrum
and
natural
history
of
these
phenotypes
,
and
now
describe
35
patients
with
segmental
overgrowth
and
somatic
PIK
3
CA
mutations
.
The
phenotypic
data
show
that
these
previously
described
disease
entities
have
considerable
overlap
,
and
represent
a
spectrum
.
While
this
spectrum
overlaps
with
Proteus
syndrome
(
sporadic
,
mosaic
,
and
progressive
)
it
can
be
distinguished
by
the
absence
of
cerebriform
connective
tissue
nevi
and
a
distinct
natural
history
.
Vascular
malformations
were
found
in
15
/
35
(
43
%
)
and
epidermal
nevi
in
4
/
35
(
11
%
)
patients
,
lower
than
in
Proteus
syndrome
.
Unlike
Proteus
syndrome
,
31
/
35
(
89
%
)
patients
with
PIK
3
CA
mutations
had
congenital
overgrowth
,
and
in
35
/
35
patients
this
was
asymmetric
and
disproportionate
.
Overgrowth
was
mild
with
little
postnatal
progression
in
most
,
while
in
others
it
was
severe
and
progressive
requiring
multiple
surgeries
.
Novel
findings
include
:
adipose
dysregulation
present
in
all
patients
,
unilateral
overgrowth
that
is
predominantly
left-sided
,
overgrowth
that
affects
the
lower
extremities
more
than
the
upper
extremities
and
progresses
in
a
distal
to
proximal
pattern
,
and
in
the
most
severely
affected
patients
is
associated
with
marked
paucity
of
adipose
tissue
in
unaffected
areas
.
While
the
current
data
are
consistent
with
some
genotype-phenotype
correlation
,
this
can
not
yet
be
confirmed
.
Diseases
Validation
Diseases presenting
"vascular malformations"
symptom
coats disease
cowden syndrome
focal myositis
proteus syndrome
pyomyositis
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