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[Inherited skin diseases - a review of selected genodermatoses].
[kindler syndrome]
Inherited
distubances
in
skin
structure
and
its
function
are
the
main
cause
of
diseases
classified
as
genodermatoses
.
The
following
clinical
entities
are
classified
as
genodermatoses
:
epidermolysis
bullosa
,
keratotic
disorders
,
disorders
of
skin
color
,
ectodermal
genodermatoses
,
genodermatoses
associated
with
connective
tissue
,
vascular
genodermatoses
and
genodermatoses
with
skin
manifestation
and
elevated
cancer
risk
.
One
of
the
most
clinically
heterogenous
group
of
genodermatoses
,
is
epidermolysis
bullosa
.
Four
main
subtypes
were
described
:
simplex
,
dystrophic
,
junctional
and
Kindler
syndrome
.
These
diseases
are
caused
by
mutations
in
the
genes
encoding
proteins
forming
junctions
between
the
dermis
and
epidermis
(
eg
.
COL
7
A
1
,
COL
17
A
1
,
KRT
14
,
KRT
5
or
genes
coding
for
332
laminin
)
.
They
are
inherited
in
an
autosomal
recessive
or
dominant
manner
.
The
disease
that
is
inherited
as
a
dominant
,
sex
dependent
trait
,
is
incontinenia
pigmenti
(
Bloch-
Sulzberger
syndrome
)
characterized
by
the
presence
of
extensive
pigmentation
changes
already
in
the
neonatal
period
.
In
patients
with
incontinenia
pigmenti
,
mutations
in
the
NEMO
gene
are
found
.
The
protein
encoded
by
NEMO
is
involved
in
the
negative
regulation
of
activity
of
the
NFκB
transcription
factor
that
is
responsible
for
apoptosis
and
cell
proliferation
control
.
In
the
regulation
of
cell
proliferation
,
the
neurofibromin
(
NF
1
)
-
the
suppressor
of
RAS
/
MAPK
signaling
pathway
activity
,
is
also
involved
.
The
mutations
in
the
NF
1
gene
are
identified
in
neurofibromatosis
type
I
-
a
genodermatosis
with
higher
risk
of
cancer
development
and
tumor
formation
.
Herein
,
a
review
of
selected
genodermatoses
in
the
context
of
their
molecular
pathology
is
presented
.
Diseases
Validation
Diseases presenting
"neurofibromatosis"
symptom
22q11.2 deletion syndrome
child syndrome
coats disease
cowden syndrome
dedifferentiated liposarcoma
kindler syndrome
monosomy 21
oculocutaneous albinism
pendred syndrome
proteus syndrome
von hippel-lindau disease
well-differentiated liposarcoma
This symptom has already been validated