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Mongolian spots: How important are they?
[gm1 gangliosidosis]
Mongolian
spots
(
MS
)
are
congenital
birthmarks
seen
most
commonly
over
the
lumbosacral
area
.
They
are
bluish-green
to
black
in
color
and
oval
to
irregular
in
shape
.
They
are
most
commonly
found
in
individuals
of
African
or
Asian
ethnic
background
.
Although
these
lesions
resolve
by
one
to
two
years
of
age
,
widespread
,
extrasacral
and
dark
colored
MS
sometimes
persist
into
adulthood
.
Aberrant
MS
over
occiput
,
temple
,
mandibular
area
,
shoulders
and
limbs
may
be
confused
with
other
dermal
melanocytoses
and
bruises
secondary
to
child
abuse
,
thus
necessitating
documentation
at
birth
.
Although
traditionally
believed
to
be
benign
in
nature
,
they
have
now
been
shown
to
co
-exist
with
inborn
errors
of
metabolism
,
most
commonly
GM
1
gangliosidosis
and
mucopolysaccharidosis
type
I
(
Hurler
's
disease
)
,
followed
by
mucopolysaccharidosis
type
II
(
Hunter
's
syndrome
)
,
mucolipidosis
,
Niemann-
Pick
disease
and
mannosidosis
.
They
have
also
been
seen
to
co
-exist
with
various
vascular
or
other
pigmented
birthmarks
like
café-
au
-lait
macules
.
Co
-existing
Mongolian
spots
and
vascular
birthmarks
like
nevus
flammeus
,
nevus
anemicus
or
nevus
spilus
is
termed
as
phakomatosis
pigmentovascularis
.
This
review
focuses
on
the
important
associations
of
Mongolian
spots
and
stresses
upon
the
importance
of
screening
babies
with
extensive
MS
.
Diseases
Validation
Diseases presenting
"congenital birthmarks"
symptom
gm1 gangliosidosis
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