Rare Diseases Symptoms Automatic Extraction
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Compound heterozygous PLEC mutations in a patient of consanguineous parentage with epidermolysis bullosa simplex with muscular dystrophy and diffuse alopecia.
[epidermolysis bullosa simplex]
Epidermolysis
bullosa
simplex
with
muscular
dystrophy
(
EBS-
MD
;
OMIM
226670
)
is
an
autosomal
recessive
form
of
EBS
,
characterized
by
skin
blistering
at
birth
and
delayed
onset
of
muscle
dystrophy
.
Mutations
in
PLEC
,
the
gene
encoding
plectin
,
have
been
identified
to
be
causal
for
EBS-
MD
.
We
report
a
case
of
EBS-
MD
with
diffuse
alopecia
.
Genetic
study
revealed
the
patient
carrying
compound
heterozygous
mutations
in
PLEC
despite
the
consanguineous
parentage
.
Diseases
Validation
Diseases presenting
"alopecia"
symptom
cadasil
congenital adrenal hyperplasia
cutaneous mastocytosis
epidermolysis bullosa simplex
harlequin ichthyosis
junctional epidermolysis bullosa
lamellar ichthyosis
oligodontia
omenn syndrome
pleomorphic liposarcoma
proteus syndrome
werner syndrome
This symptom has already been validated