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Kindler syndrome in native Americans from Panama: report of 26 cases.
[kindler syndrome]
To
investigate
the
clinical
,
genetic
,
and
laboratory
features
of
26
patients
with
Kindler
syndrome
.
Case
series
of
patients
recruited
when
they
were
seen
at
outpatient
consultations
in
the
Department
of
Dermatology
at
the
Changuinola
Hospital
in
Bocas
del
Toro
,
Panama
,
between
May
1986
and
December
1990
.
Clinical
history
,
physical
examination
,
and
laboratory
studies
were
done
at
a
community
hospital
in
Panama
.
Twelve
of
the
patients
had
further
studies
performed
at
a
children
's
hospital
in
Costa
Rica
.
A
total
of
26
patients
were
entered
into
the
study
.
They
were
members
of
the
Ngöbe-
Buglé
tribe
and
resided
in
isolated
villages
in
rural
Panama
.
The
major
findings
were
skin
fragility
with
blistering
(
100
%
)
,
poikiloderma
(
96
%
)
,
photosensitivity
(
92
%
)
,
severe
cutaneous
atrophy
(
89
%
)
,
hyperkeratosis
of
the
palms
and
soles
(
81
%
)
,
congenital
acral
blisters
(
81
%
)
,
severe
periodontal
disease
(
81
%
)
,
and
phimosis
(
80
%
of
male
subjects
)
.
In
1
large
family
with
10
patients
,
inheritance
of
Kindler
syndrome
followed
that
of
an
autosomal
recessive
disease
.
Karyotypes
in
3
patients
and
1
unaffected
father
were
normal
.
Findings
from
ultrastructural
studies
showed
replication
of
lamina
densa
in
10
patients
.
To
our
knowledge
,
this
study
represents
the
largest
series
to
date
of
patients
with
Kindler
syndrome
.
The
clinical
features
confirm
previously
reported
cases
,
and
segregation
analysis
confirms
its
autosomal
recessive
inheritance
.
We
also
report
severe
phimosis
as
a
complication
,
which
has
not
been
previously
described
in
this
syndrome
.
Diseases
Validation
Diseases presenting
"poikiloderma"
symptom
erythropoietic protoporphyria
kindler syndrome
This symptom has already been validated
