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Aplasia cutis congenita with dystrophic epidermolysis bullosa: clinical and mutational study.
[dystrophic epidermolysis bullosa]
Aplasia
cutis
congenita
(
ACC
)
has
been
associated
with
all
clinical
forms
of
inherited
epidermolysis
bullosa
(
EB
)
,
including
dominant
and
recessive
dystrophic
EB
(
DDEB
and
RDEB
)
.
To
date
,
only
a
few
patients
with
DEB
specifically
combined
with
ACC
have
been
described
and
genotyped
and
almost
all
cases
represent
dominant
forms
of
the
condition
.
The
aim
of
this
study
was
to
describe
new
mutations
of
COL
7
A
1
in
patients
with
DEB
and
ACC
and
investigate
possible
genotype-phenotype
correlations
.
Twenty
-
two
patients
with
DEB
and
ACC
were
included
among
the
123
patients
with
DEB
whose
COL
7
A
1
mutations
have
been
identified
in
the
Reference
Centre
in
Nice
.
Seven
patients
presented
a
severe
generalized
RDEB
phenotype
(
RDEB-sev-gen
)
,
while
the
other
15
suffered
from
milder
phenotypes
.
We
identified
28
mutations
in
COL
7
A
1
,
of
which
nine
are
novel
.
Patients
with
severe
phenotypes
have
mostly
mutations
leading
to
premature
termination
codon
(
PTC
)
and
/
or
splice-site
or
missense
mutations
.
Patients
with
the
milder
phenotypes
have
mostly
glycine
or
arginine
substitutions
associated
or
not
with
other
types
of
mutations
.
All
amino
acid
substitutions
fell
within
the
carboxyl
portion
of
the
triple
helix
domain
(
THD
)
of
collagen
VII
,
close
to
the
THD
interruptions
.
O
ur
findings
suggest
that
ACC
is
a
frequent
manifestation
in
patients
with
DEB
irrespective
of
the
severity
of
the
disease
,
and
is
due
to
leg
rubbing
in
utero
.
In
children
with
a
moderate
form
of
DEB
with
no
or
moderate
skin
fragility
,
a
glycine
substitution
near
the
THD
interruption
domain
of
the
collagen
VII
leading
to
thermolabile
protein
could
explain
this
phenomenon
.