Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
[Kindler syndrome: three cases reports in three siblings].
[kindler syndrome]
Kindler
syndrome
is
a
rare
type
of
genetic
skin
condition
belonging
to
the
class
of
bullous
poikilodermia
.
We
report
three
new
cases
of
this
rare
syndrome
.
This
condition
was
seen
in
two
brothers
aged
4
and
14
years
and
in
their
sister
aged
6
years
,
born
of
a
first
-degree
consanguineous
marriage
in
a
family
with
Kindler
syndrome
of
varying
degrees
of
severity
.
The
three
patients
presented
spontaneously
regressive
bullous
eruptions
,
poikilodermia
of
gradual
onset
,
major
cutaneous
atrophy
on
the
back
of
the
hands
and
the
feet
,
pseudo-
syndactyly
and
photosensitivity
.
The
older
brother
presented
a
severe
form
complicated
by
chronic
terminal
renal
failure
with
hydronephrosis
secondary
to
urethral
stenosis
and
hypertension
as
well
as
oesophageal
stenosis
requiring
dilatation
sessions
.
Electron
microscopy
examination
of
poikilodermic
skin
showed
normal
anchoring
filaments
and
proliferation
of
the
basal
layer
.
Electron
microscopy
examination
of
rubbed
poikilodermic
skin
from
the
other
two
siblings
showed
cleavage
at
both
the
superficial
and
deep
intra-epidermal
levels
.
Diagnosis
of
Kindler
syndrome
is
based
upon
clinical
evidence
.
Electron
microscopic
examination
is
used
in
particular
to
rule
out
congenital
bullous
epidermolysis
.
Detachment
of
layers
at
two
or
three
different
levels
in
relation
to
the
dermal-epidermal
junction
described
in
the
literature
forms
a
specific
but
inconsistent
feature
of
Kindler
syndrome
.
