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Ectodermal dysplasia-skin fragility syndrome.
[epidermolysis bullosa simplex]
Pathogenic
mutations
have
now
been
described
in
ten
different
desmosomal
proteins
:
plakophilin
1
(
PKP
1
)
and
2
(
PKP
2
)
;
desmoplakin
;
plakoglobin
;
desmoglein
1
,
2
,
and
4
;
desmocollin
2
,
and
3
corneodesmosin
.
Nevertheless
,
the
first
report
of
an
inherited
desmosomal
gene
disorder
,
published
in
1997
,
involved
loss
-of-function
mutations
on
both
alleles
of
PKP
1
,
the
PKP
1
gene
.
Loss
of
PKP
1
expression
in
human
skin
leads
to
skin
erosions
and
crusting
,
notably
with
perioral
fissuring
as
well
as
palmoplantar
hyperkeratosis
with
painful
cracking
of
the
skin
.
Other
more
variable
features
include
abnormalities
of
ectodermal
development
with
growth
delay
,
hypotrichosis
or
alopecia
,
hypohidrosis
,
and
nail
dystrophy
.
In
contrast
to
some
other
inherited
disorders
of
desmosomes
,
there
is
no
cardiac
pathology
in
individuals
with
PKP
1
mutations
since
it
is
not
expressed
in
the
heart
.
The
collection
of
clinical
features
in
individuals
with
PKP
1
mutations
has
been
termed
ectodermal
dysplasia
-
skin
fragility
(
ED
-SF
)
syndrome
.
This
genodermatosis
is
classified
as
a
suprabasal
form
of
epidermolysis
bullosa
simplex
and
thus
far
there
have
been
10
published
cases
.
Skin
biopsy
shows
acanthosis
,
acantholysis
,
and
a
reduced
number
of
small
,
poorly
formed
desmosomes
.
Loss
of
PKP
1
expression
results
in
an
integral
weakness
within
the
desmosomal
plaque
,
leading
to
desmosomal
detachment
and
cell-cell
separation
.
Thus
,
the
clinicopathologic
features
attest
to
the
significant
role
of
PKP
1
in
stabilization
of
desmosome
structure
and
function
,
predominantly
in
the
spinous
layers
of
the
epidermis
.
This
article
reviews
the
clinical
,
structural
,
and
molecular
pathology
of
this
genetic
disorder
of
desmosomes
.
Diseases
Validation
Diseases presenting
"pkp1 mutations"
symptom
epidermolysis bullosa simplex
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