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Kindler syndrome.
[kindler syndrome]
Kindler
syndrome
is
a
rare
genodermatosis
characterized
by
acral
bullae
and
photosensitivity
.
The
photosensitivity
improves
with
advancing
age
and
results
in
progressive
poikiloderma
and
cutaneous
atrophy
,
and
many
additional
features
have
also
been
described
.
This
report
describes
two
male
Kindler
syndrome
patients
with
classical
features
of
acral
blistering
and
photosensitivity
in
childhood
,
and
subsequent
development
of
poikiloderma
,
leukokeratosis
of
oro-ano-
genital
mucosae
,
phimosis
and
meatal
stenosis
.
The
first
patient
had
additional
ophthalmic
features
of
chronic
simple
conjunctivitis
caused
by
persistent
irritation
,
multiple
stromal
nebular
corneal
opacities
and
thickened
corneal
nerves
.
The
second
patient
showed
skeletal
changes
,
namely
a
dome-shaped
skull
(
turri-cephaly
)
,
bifid
fourth
rib
,
missing
fifth
rib
,
short
fourth
and
fifth
metacarpals
and
mandibular
abnormalities
.
This
is
the
first
report
of
such
ophthalmic
and
skeletal
features
of
Kindler
syndrome
.
Diseases
Validation
Diseases presenting
"first report"
symptom
achondroplasia
alexander disease
aniridia
cadasil
canavan disease
child syndrome
cohen syndrome
congenital toxoplasmosis
cowden syndrome
cushing syndrome
cutaneous mastocytosis
cystinuria
dedifferentiated liposarcoma
dentinogenesis imperfecta
dracunculiasis
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
erdheim-chester disease
esophageal squamous cell carcinoma
fabry disease
familial mediterranean fever
focal myositis
harlequin ichthyosis
hirschsprung disease
hodgkin lymphoma, classical
holt-oram syndrome
homocystinuria without methylmalonic aciduria
inclusion body myositis
junctional epidermolysis bullosa
kabuki syndrome
kindler syndrome
krabbe disease
lamellar ichthyosis
liposarcoma
lymphangioleiomyomatosis
monosomy 21
neonatal adrenoleukodystrophy
neuralgic amyotrophy
oculocutaneous albinism
oligodontia
omenn syndrome
pendred syndrome
pleomorphic liposarcoma
primary hyperoxaluria type 1
pyomyositis
pyruvate dehydrogenase deficiency
scrub typhus
severe combined immunodeficiency
sneddon syndrome
triple a syndrome
typhoid
waldenström macroglobulinemia
werner syndrome
wiskott-aldrich syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
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