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Keratin gene mutations in disorders of human skin and its appendages.
[epidermolysis bullosa simplex]
Keratins
,
the
major
structural
protein
of
all
epithelia
are
a
diverse
group
of
cytoskeletal
scaffolding
proteins
that
form
intermediate
filament
networks
,
providing
structural
support
to
keratinocytes
that
maintain
the
integrity
of
the
skin
.
Expression
of
keratin
genes
is
usually
regulated
by
differentiation
of
the
epidermal
cells
within
the
stratifying
squamous
epithelium
.
Amongst
the
54
known
functional
keratin
genes
in
humans
,
about
22
different
genes
including
,
the
cornea
,
hair
and
hair
follicle-
specific
keratins
have
been
implicated
in
a
wide
range
of
hereditary
diseases
.
The
exact
phenotype
of
each
disease
usually
reflects
the
spatial
expression
level
and
the
types
of
mutated
keratin
genes
,
the
location
of
the
mutations
and
their
consequences
at
sub-cellular
levels
as
well
as
other
epigenetic
and
/
or
environmental
factors
.
The
identification
of
specific
pathogenic
mutations
in
keratin
disorders
formed
the
basis
of
our
understanding
that
led
to
re
-classification
,
improved
diagnosis
with
prognostic
implications
,
prenatal
testing
and
genetic
counseling
in
severe
keratin
genodermatoses
.
Molecular
defects
in
cutaneous
keratin
genes
encoding
for
keratin
intermediate
filaments
(
KIFs
)
causes
keratinocytes
and
tissue-
specific
fragility
,
accounting
for
a
large
number
of
genetic
disorders
in
human
skin
and
its
appendages
.
These
diseases
are
characterized
by
keratinocytes
fragility
(
cytolysis
)
,
intra-epidermal
blistering
,
hyperkeratosis
,
and
keratin
filament
aggregation
in
severely
affected
tissues
.
Examples
include
epidermolysis
bullosa
simplex
(
EBS
;
K
5
,
K
14
)
,
keratinopathic
ichthyosis
(
KPI
;
K
1
,
K
2
,
K
10
)
i
.
e
.
epidermolytic
ichthyosis
(
EI
;
K
1
,
K
10
)
and
ichthyosis
bullosa
of
Siemens
(
IBS
;
K
2
)
,
pachyonychia
congenita
(
PC
;
K
6
a
,
K
6
b
,
K
16
,
K
17
)
,
epidermolytic
palmo-
plantar
keratoderma
(
EPPK
;
K
9
,
(
K
1
)
)
,
monilethrix
(
K
81
,
K
83
,
K
86
)
,
ectodermal
dysplasia
(
ED
;
K
85
)
and
steatocystoma
multiplex
.
These
keratins
also
have
been
identified
to
have
roles
in
apoptosis
,
cell
proliferation
,
wound
healing
,
tissue
polarity
and
remodeling
.
This
review
summarizes
and
discusses
the
clinical
,
ultrastructural
,
molecular
genetics
and
biochemical
characteristics
of
a
broad
spectrum
of
keratin-related
genodermatoses
,
with
special
clinical
emphasis
on
EBS
,
EI
and
PC
.
We
also
highlight
current
and
emerging
model
tools
for
prognostic
future
therapies
.
Hopefully
,
disease
modeling
and
in
-depth
understanding
of
the
molecular
pathogenesis
of
the
diseases
may
lead
to
the
development
of
novel
therapies
for
several
hereditary
cutaneous
diseases
.
Diseases
Validation
Diseases presenting
"wide range"
symptom
22q11.2 deletion syndrome
acute rheumatic fever
adrenomyeloneuropathy
alexander disease
allergic bronchopulmonary aspergillosis
alpha-thalassemia
aromatase deficiency
benign recurrent intrahepatic cholestasis
cadasil
carcinoma of the gallbladder
congenital toxoplasmosis
cowden syndrome
cystinuria
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
erdheim-chester disease
fabry disease
gm1 gangliosidosis
harlequin ichthyosis
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
legionellosis
neonatal adrenoleukodystrophy
oral submucous fibrosis
pendred syndrome
phenylketonuria
pleomorphic liposarcoma
primary effusion lymphoma
primary hyperoxaluria type 1
proteus syndrome
pyruvate dehydrogenase deficiency
scrub typhus
systemic capillary leak syndrome
thoracic outlet syndrome
triple a syndrome
trochlear dysplasia
well-differentiated liposarcoma
werner syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
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