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Kindler syndrome: a study of five Egyptian cases with evaluation of severity.
[kindler syndrome]
Kindler
syndrome
(
KS
)
is
a
rare
genodermatosis
characterized
by
four
major
features
(
acral
blisters
,
photosensitivity
,
poikiloderma
,
and
cutaneous
atrophy
)
and
many
associated
findings
.
The
diagnosis
of
KS
includes
clinical
features
,
ultrastructural
findings
,
and
,
recently
,
immunostaining
and
genetic
studies
.
Varying
degrees
of
severity
of
the
syndrome
have
been
described
.
Five
patients
with
clinical
features
consistent
with
KS
were
included
in
this
study
.
All
patients
were
subjected
to
histopathologic
and
ultrastructural
studies
.
Cases
1
and
2
presented
with
severe
major
features
,
severe
mucosal
involvement
,
and
many
other
associated
findings
.
Case
3
presented
with
severe
major
features
,
but
mild
and
limited
mucosal
involvement
and
other
associated
findings
.
Cases
4
and
5
showed
mild
major
features
and
few
other
findings
.
Histopathology
revealed
nonspecific
poikiloderma
.
Marked
thickening
of
the
lamina
densa
and
splitting
of
the
lamina
lucida
were
the
main
ultrastructural
findings
.
KS
may
be
classified
into
mild
,
moderate
,
and
severe
according
to
the
severity
of
the
major
features
and
mucosal
involvement
.
Because
histopathologic
and
ultrastructural
findings
are
not
pathognomonic
,
clinical
features
remain
the
mainstay
for
the
diagnosis
of
KS
,
and
the
need
for
immunostaining
with
kindlin
antibody
and
genetic
studies
may
be
restricted
to
early
cases
with
incomplete
features
.
Diseases
Validation
Diseases presenting
"poikiloderma"
symptom
erythropoietic protoporphyria
kindler syndrome
This symptom has already been validated