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Kallin syndrome associated with vitiligo.
[epidermolysis bullosa simplex]
Kallin
syndrome
(
KS
)
is
a
variant
of
epidermolysis
bullosa
simplex
(
EBS
)
,
which
,
in
addition
to
the
classic
features
of
EBS
,
also
presents
with
deafness
,
alopecia
,
hypodontia
and
nail
dystrophy
.
We
report
the
case
of
a
17
-
year
-old
boy
who
presented
to
our
clinic
with
trauma-induced
skin
blistering
,
alopecia
,
deafness
,
dental
caries
,
nail
dystrophy
and
vitiliginous
areas
.
The
skin
blisters
had
been
appearing
since
birth
,
and
healed
without
scarring
.
The
vitiliginous
areas
were
unrelated
to
the
sites
of
the
blisters
.
Electron
microscopy
of
the
skin
blisters
was
diagnostic
of
EBS
,
and
the
depigmented
lesions
were
similar
to
those
of
vitiligo
.
An
association
of
vitiligo
with
EBS
has
not
been
reported
previously
.
Multiple
genetic
findings
have
confirmed
a
role
for
keratin
in
regulating
skin
pigmentation
.
Apoptosis
of
melanosome-bearing
keratinocytes
may
participate
in
the
reduction
of
melanin
density
and
result
in
depigmentation
.
Further
studies
on
the
defective
proteins
in
KS
may
clarify
the
mechanism
underlying
the
association
with
vitiligo
.
Diseases
Validation
Diseases presenting
"defective proteins"
symptom
epidermolysis bullosa simplex
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