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Retrospective diagnosis of Kindler syndrome in a 37-year-old man.
[kindler syndrome]
Kindler
syndrome
is
a
rare
autosomal
recessive
disorder
characterized
by
acral
blisters
in
infancy
and
early
childhood
,
followed
by
photosensitivity
,
progressive
poikiloderma
and
cutaneous
atrophy
.
Other
features
include
webbing
of
the
toes
and
fingers
,
palmoplantar
hyperkeratosis
,
gingival
fragility
,
poor
dentition
,
and
mucosal
involvement
in
the
form
of
urethral
,
anal
and
oesophageal
stenosis
.
The
recent
finding
of
KIND
1
mutations
in
Kindler
syndrome
facilitates
early
diagnosis
,
prophylactic
measures
and
more
precise
definition
of
the
phenotype
.
In
the
family
described
here
,
molecular
diagnosis
of
Kindler
syndrome
in
an
infant
with
acral
blisters
led
to
the
belated
diagnosis
in
a
severely
affected
relative
whose
condition
had
remained
unidentified
for
37
years
.
Diseases
Validation
Diseases presenting
"early childhood"
symptom
22q11.2 deletion syndrome
achondroplasia
alpha-thalassemia
aniridia
aromatase deficiency
benign recurrent intrahepatic cholestasis
canavan disease
congenital adrenal hyperplasia
congenital diaphragmatic hernia
cystinuria
erythropoietic protoporphyria
fabry disease
gm1 gangliosidosis
junctional epidermolysis bullosa
kabuki syndrome
kindler syndrome
papillon-lefèvre syndrome
proteus syndrome
pyruvate dehydrogenase deficiency
triple a syndrome
werner syndrome
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