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Poikiloderma with neutropenia, Clericuzio type, in a family from Morocco.
[kindler syndrome]
Three
siblings
from
Morocco
consanguineous
family
presented
with
cutaneous
poikiloderma
following
postnatal
ichthyosiform
lesions
,
associated
with
papillomatous
lesions
,
palmoplantar
keratoderma
,
pachyonychia
of
toenails
,
fragile
carious
teeth
,
and
lachrymal
duct
obstruction
.
Photosensitivity
and
blistering
improved
with
age
.
Atrophic
scars
were
prominent
on
the
limbs
.
Neutropenia
developed
in
the
first
year
secondary
to
dysmyelopoiesis
affecting
the
granulocyte
lineage
,
associated
with
a
polyclonal
hypergammaglobulinemia
.
Several
broncho-
pulmonary
infectious
episodes
complicated
the
evolution
,
and
cystic
fibrosis
was
first
considered
on
the
basis
of
repeated
abnormal
sweat
chloride
tests
but
not
confirmed
by
molecular
analyses
.
This
autosomal
recessive
disorder
matches
that
described
originally
as
poikiloderma
with
neutropenia
-
Clericuzio
type
in
Navajo
Indians
(
OMIM
604173
)
.
It
is
discussed
within
the
group
of
the
major
hereditary
poikiloderma
disorders
,
that
is
,
Rothmund-
Thomson
syndrome
,
dyskeratosis
congenita
,
and
Kindler
syndrome
.
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kabuki syndrome
kindler syndrome
oral submucous fibrosis
trochlear dysplasia
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