Rare Diseases Symptoms Automatic Extraction
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Macrodystrophia lipomatosa involving multiple nerves.
[proteus syndrome]
Macrodystrophia
lipomatosa
(
MDL
)
,
a
rare
congenital
disorder
,
is
considered
by
some
to
be
a
localized
form
of
Proteus
syndrome
.
The
implication
of
the
PTEN
(
phosphatase
and
tensin
homolog
deleted
on
chromosome
10
)
gene
in
both
strengthens
this
belief
.
We
present
a
case
who
had
MDL
in
multiple
nerve
territories--all
on
the
same
side
of
the
body--with
hypertrophy
of
mainly
fibroadipose
tissue
throughout
their
distribution
,
thus
pointing
to
a
form
of
localized
hemihypertrophy
;
both
hemihypertrophy
and
lipomatous
tumors
are
components
of
Proteus
syndrome
.
Diseases
Validation
Diseases presenting
"hemihypertrophy"
symptom
proteus syndrome
This symptom has already been validated
