Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Sporadic Kindler syndrome with a novel mutation.
[kindler syndrome]
We
report
the
case
of
a
28
-
year
-old
woman
with
Kindler
syndrome
,
a
rare
form
of
epidermolysis
bullosa
.
Clinically
,
since
childhood
,
she
had
widespread
pigmentary
changes
in
her
skin
as
well
as
photosensitivity
and
fragility
of
the
skin
and
mucous
membranes
.
The
mucosal
involvement
led
to
an
erosive
stomatitis
as
well
as
esophageal
,
anal
and
vaginal
stenoses
,
requiring
surgical
intervention
.
The
diagnosis
of
Kindler
syndrome
was
confirmed
by
DNA
sequencing
with
compound
heterozygosity
for
a
nonsense
/
frameshift
combination
of
mutations
(
p
.
Arg
110
X
;
p
.
Ala
289
GlyfsX
7
)
in
the
FERMT
1
gene
.
