Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Multiple pilomatricomas in Kabuki syndrome.
[kabuki syndrome]
Pilomatricoma
is
a
benign
tumor
of
the
hair
matrix
cell
that
presents
predominantly
in
childhood
.
Although
pilomatricoma
occurs
spontaneously
,
multiple
pilomatricomas
have
been
described
in
association
with
several
inherited
syndromes
.
We
report
on
a
28
-
year
-old
man
with
Kabuki
syndrome
with
three
pilomatricomas
in
his
head
and
thigh
.
Although
several
reports
describe
multiple
pilomatricomas
associated
with
Turner
syndrome
,
there
are
no
reports
of
multiple
pilomatricomas
combined
with
Kabuki
syndrome
.
Ectodermal
abnormalities
such
as
hair
abnormality
and
hirsutism
are
symptoms
of
Kabuki
syndrome
,
and
pilomatricomas
are
frequently
associated
with
the
mutations
of
beta
-catenin
in
hair
follicle
development
.
The
predisposition
of
pilomatricomas
may
be
not
merely
a
coincidental
finding
,
but
an
added
association
with
Kabuki
syndrome
.
Diseases
Validation
Diseases presenting
"there are no reports of multiple pilomatricomas combined with kabuki syndrome"
symptom
kabuki syndrome
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom