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Kindler syndrome: report of three cases in a family and a brief review.
[kindler syndrome]
Kindler
syndrome
is
an
autosomal
recessive
disorder
with
neonatal
blister
formation
,
photosensitivity
,
atrophy
,
abnormal
pigmentation
,
and
fragility
of
the
skin
.
Skin
atrophy
is
more
prominent
on
the
extremities
and
the
skin
manifestations
improve
with
age
.
We
report
three
cases
in
a
family
which
present
the
clinical
and
pathologic
manifestations
of
Kindler
syndrome
.
All
of
the
three
cases
reported
here
present
skin
changes
on
the
extremities
,
face
,
and
neck
,
including
hyper-
and
hypopigmentation
,
atrophy
,
and
telangiectasia
.
The
condition
in
these
cases
started
soon
after
birth
.
Two
of
these
cases
also
had
mucosal
involvement
.
Increased
photosensitivity
and
sunburn
after
minimal
sun
exposure
should
lead
physicians
to
examine
the
skin
for
poikiloderma
and
the
mouth
for
fragility
of
the
gums
,
periodontitis
and
other
associated
findings
.
Also
,
patients
should
be
questioned
about
any
history
of
blister
formation
as
well
as
family
history
.
Diseases
Validation
Diseases presenting
"telangiectasia"
symptom
coats disease
cowden syndrome
cutaneous mastocytosis
hereditary cerebral hemorrhage with amyloidosis
kallmann syndrome
kindler syndrome
malignant atrophic papulosis
omenn syndrome
pendred syndrome
severe combined immunodeficiency
systemic capillary leak syndrome
triple a syndrome
waldenström macroglobulinemia
werner syndrome
This symptom has already been validated