Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Kindler syndrome with severe mucosal involvement in childhood.
[kindler syndrome]
Kindler
syndrome
(
KS
)
is
an
inherited
dermatosis
linked
to
the
FERMT
1
gene
,
and
is
characterized
clinically
by
trauma-induced
acral
skin
blisters
in
infancy
and
childhood
,
photosensitivity
,
and
progressive
poikiloderma
.
We
report
a
case
of
KS
in
a
7
-
year
-old
Indian
girl
with
severe
mucosal
involvement
of
the
oral
cavity
and
genitourinary
tract
.
Mutation
analysis
in
the
girl
showed
a
homozygous
FERMT
1
mutation
,
c
.
862
C
>
T
,
p
.
R
288
*
.
The
clinical
manifestations
in
patients
with
KS
show
significant
inter
individual
variation
,
even
with
the
same
type
of
mutations
and
within
members
of
the
same
family
.
Our
case
highlights
the
role
of
environmental
modifiers
in
regulating
the
clinical
features
of
KS
.
