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Under-recognition of acral peeling skin syndrome: 59 new cases with 15 novel mutations.
[epidermolysis bullosa simplex]
Acral
peeling
skin
syndrome
(
APSS
)
is
a
rare
skin
fragility
disorder
usually
caused
by
mutations
in
the
transglutaminase
5
gene
(
TGM
5
)
.
We
investigated
the
mutation
spectrum
of
APSS
in
the
U
.
K
.
,
Germany
and
Poland
.
We
identified
59
children
with
APSS
from
52
families
.
The
phenotype
was
readily
recognizable
,
with
some
variation
in
severity
both
within
and
between
families
.
Most
cases
had
been
misdiagnosed
as
the
localized
form
of
epidermolysis
bullosa
simplex
(
EBS-loc
)
.
Eighteen
different
TGM
5
mutations
were
identified
,
15
of
which
were
novel
.
Eight
mutations
were
unique
to
a
single
family
,
nine
each
occurred
in
two
families
,
while
the
common
p
.
Gly
113
Cys
mutation
linked
to
a
second
missense
variant
p
.
Thr
109
Met
occurred
in
47
of
the
52
families
and
was
homozygous
in
28
.
Most
patients
were
of
nonconsanguineous
white
European
origin
.
We
propose
that
APSS
is
under-reported
and
widely
misdiagnosed
as
EBS-loc
,
with
significant
counselling
implications
as
APSS
is
autosomal
recessive
while
EBS-loc
is
dominant
.
We
recommend
screening
for
TGM
5
mutations
when
EBS-loc
is
suspected
but
not
confirmed
by
mutations
in
KRT
5
or
KRT
14
.
Our
report
trebles
the
number
of
known
TGM
5
mutations
.
It
provides
further
evidence
that
p
.
G
ly
113
C
ys
is
a
founder
mutation
in
the
European
population
.
This
is
consistent
with
the
striking
ethnic
distribution
of
APSS
in
U
.
K
.
,
where
the
majority
of
patients
are
of
nonconsanguineous
white
European
origin
,
in
contrast
to
the
pattern
of
other
recessive
skin
disorders
.
Diseases
Validation
Diseases presenting
"been misdiagnosed as the localized form of epidermolysis"
symptom
epidermolysis bullosa simplex
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