Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
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
"first case"
symptom
achondroplasia
adrenal incidentaloma
allergic bronchopulmonary aspergillosis
alpha-thalassemia
aniridia
aromatase deficiency
canavan disease
carcinoma of the gallbladder
child syndrome
cholangiocarcinoma
classical phenylketonuria
coats disease
cohen syndrome
congenital toxoplasmosis
cushing syndrome
cutaneous mastocytosis
dedifferentiated liposarcoma
dentin dysplasia
dracunculiasis
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
esophageal adenocarcinoma
esophageal carcinoma
fabry disease
familial mediterranean fever
focal myositis
gm1 gangliosidosis
harlequin ichthyosis
hodgkin lymphoma, classical
homocystinuria without methylmalonic aciduria
junctional epidermolysis bullosa
kabuki syndrome
krabbe disease
lamellar ichthyosis
legionellosis
liposarcoma
locked-in syndrome
malignant atrophic papulosis
monosomy 21
neonatal adrenoleukodystrophy
oculocutaneous albinism
omenn syndrome
papillon-lefèvre syndrome
pendred syndrome
pleomorphic liposarcoma
primary effusion lymphoma
primary hyperoxaluria type 1
proteus syndrome
pyomyositis
systemic capillary leak syndrome
thoracic outlet syndrome
von hippel-lindau disease
waldenström macroglobulinemia
well-differentiated liposarcoma
werner syndrome
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom