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Proteus syndrome review: molecular, clinical, and pathologic features.
[proteus syndrome]
Proteus
syndrome
is
caused
by
an
activating
AKT
1
mutation
(
c
.
49
G
>
A
,
p
.
Glu
17
Lys
)
.
Many
variable
features
are
possible
in
this
mosaic
disorder
,
including
:
(
i
)
disproportionate
,
asymmetric
,
and
distorting
overgrowth
;
(
ii
)
bone
abnormalities
different
from
those
observed
in
other
disorders
;
(
iii
)
a
characteristic
cerebriform
connective
tissue
nevus
made
up
of
highly
collagenized
connective
tissue
;
(
iv
)
epidermal
nevi
in
early
life
,
consisting
of
acanthosis
and
hyperkeratosis
;
(
v
)
vascular
malformations
of
the
capillary
,
venous
,
or
lymphatic
types
;
(
vi
)
dysregulated
adipose
tissue
including
lipomas
,
lipohypoplasia
,
fatty
overgrowth
,
and
localized
fat
deposits
;
(
vii
)
other
unusual
features
,
including
bullous
lung
alterations
;
specific
neoplasms
;
a
facial
phenotype
associated
with
intellectual
disability
and
/
or
seizures
,
and
/
or
brain
malformations
;
and
(
viii
)
deep
vein
thrombosis
,
resulting
in
premature
death
.
Concluding
remarks
address
diagnostic
criteria
,
natural
history
,
management
,
psychosocial
issues
,
and
differential
diagnosis
.
Diseases
Validation
Diseases presenting
"specific neoplasms"
symptom
proteus syndrome
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