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Kindler syndrome.
[kindler syndrome]
Kindler
syndrome
(
MIM
173650
)
is
an
autosomal
recessive
genodermatosis
characterized
by
poikiloderma
,
trauma-induced
skin
blistering
,
mucosal
inflammation
,
and
photosensitivity
.
Loss
-of-function
mutations
in
the
FERMT
1
gene
are
the
cause
of
Kindler
syndrome
.
Kindler
syndrome
is
categorized
as
a
subtype
of
epidermolysis
bullosa
(
EB
)
.
During
infancy
and
childhood
,
there
is
clinical
overlap
between
Kindler
syndrome
and
dystrophic
EB
.
Unlike
other
forms
of
EB
,
Kindler
syndrome
is
characterized
by
impaired
actin
cytoskeleton-extracellular
matrix
interactions
and
a
variable
plane
of
blister
formation
at
or
close
to
the
dermal-epidermal
junction
.
This
article
reviews
clinicopathologic
and
molecular
features
of
Kindler
syndrome
and
discusses
patient
management
.
Diseases
Validation
Diseases presenting
"loss-of-function mutations"
symptom
achondroplasia
alpha-thalassemia
aromatase deficiency
child syndrome
cowden syndrome
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
erythropoietic protoporphyria
esophageal adenocarcinoma
familial hypocalciuric hypercalcemia
harlequin ichthyosis
hirschsprung disease
kallmann syndrome
kindler syndrome
lamellar ichthyosis
neonatal adrenoleukodystrophy
pendred syndrome
werner syndrome
x-linked adrenoleukodystrophy
This symptom has already been validated