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Epidermolysis bullosa simplex with PLEC mutations: new phenotypes and new mutations.
[epidermolysis bullosa simplex]
Genetic
mutations
in
the
plectin
gene
(
PLEC
)
cause
autosomal
recessive
forms
of
epidermolysis
bullosa
simplex
(
EBS
)
associated
with
either
muscular
dystrophy
(
EBS-
MD
)
or
pyloric
atresia
(
EBS-
PA
)
.
Phenotype-genotype
analysis
has
suggested
that
EBS-
MD
is
due
mostly
to
genetic
mutations
affecting
the
central
rod
domain
of
plectin
,
and
EBS-
PA
to
mutations
outside
this
domain
.
This
study
aimed
to
describe
new
phenotypes
of
patients
with
EBS-
MD
and
EBS-
PA
,
to
identify
novel
PLEC
mutations
and
to
establish
genotype-phenotype
correlations
.
Seven
patients
with
a
suspicion
of
EBS
linked
to
PLEC
mutations
were
included
.
A
standardized
clinical
questionnaire
was
sent
to
the
physicians
in
charge
of
each
patient
.
Immunofluorescence
studies
of
skin
biopsies
followed
by
molecular
analysis
of
PLEC
were
performed
in
all
patients
.
We
report
the
first
case
of
nonlethal
EBS-
PA
improving
with
age
,
the
first
multisystemic
involvement
in
a
patient
with
lethal
EBS-
PA
,
and
the
first
patients
with
EBS-
MD
with
involvement
of
either
the
bladder
or
oesophagus
.
Eleven
novel
PLEC
mutations
are
also
reported
.
Our
results
confirm
that
EBS-
PA
is
linked
to
mutations
in
the
distal
exons
1
-
30
and
32
of
PLEC
.
Long
-term
survival
is
possible
,
with
skin
improvement
,
but
a
delayed
onset
of
MD
is
probable
.
While
EBS-
MD
is
linked
to
PLEC
mutations
in
all
exons
,
in
most
cases
one
of
the
mutations
affects
exon
31
.
The
precocity
of
MD
seems
to
be
linked
to
the
type
and
localization
of
the
PLEC
mutation
(
s
)
,
but
no
correlation
with
mucosal
involvement
has
been
found
.
Diseases
Validation
Diseases presenting
"central rod domain"
symptom
epidermolysis bullosa simplex
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