Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Mild clinical phenotype of Kindler syndrome associated with late diagnosis and skin cancer.
[kindler syndrome]
Kindler
syndrome
(
KS
)
is
a
heritable
skin
disorder
with
a
complex
phenotype
consisting
of
congenital
skin
blistering
,
photosensitivity
,
progressive
generalized
poikiloderma
and
extensive
skin
atrophy
.
Here
we
describe
2
siblings
with
KS
,
who
are
,
to
the
best
of
our
knowledge
,
the
oldest
patients
reported
so
far
in
the
literature
.
The
diagnosis
was
established
in
their
seventh
and
eighth
decades
of
life
,
and
confirmed
by
mutation
analysis
.
Both
patients
were
homozygous
for
the
recurrent
FERMT
1
mutation
,
c
.
328
C
→
T
,
p
.
R
110
X
.
Because
of
a
relatively
mild
course
of
the
disease
,
mucosal
membranes
in
the
eyes
and
oesophagus
being
predominantly
affected
in
recent
years
,
they
had
been
treated
under
other
diagnoses
,
such
as
scleroderma
.
Cutaneous
precancerous
lesions
and
epithelial
skin
cancer
arose
in
both
siblings
after
the
age
of
50
years
and
were
treated
in
an
early
stage
.
Taken
together
,
we
describe
the
natural
course
of
KS
,
the
morphological
abnormalities
occurring
in
the
skin
of
older
KS
patients
,
we
discuss
the
differential
diagnosis
and
the
association
between
KS
and
squamous
cell
carcinoma
.
Diseases
Validation
Diseases presenting
"photosensitivity"
symptom
cholangiocarcinoma
erythropoietic protoporphyria
inclusion body myositis
kindler syndrome
This symptom has already been validated
