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Genetic mapping in papillon-lefèvre syndrome: a report of two cases.
[papillon-lefèvre syndrome]
Papillon-
Lefevre
syndrome
(
PLS
)
is
a
rare
autosomal
recessive
heterogeneous
trait
which
is
characterized
by
erythematous
palmoplantar
hyperkeratosis
,
early
-onset
periodontitis
,
and
associated
calcification
of
dura
mater
.
The
etiology
of
PLS
is
multifactorial
with
genetic
,
immunological
,
and
microbial
factors
playing
a
role
in
etiopathogenesis
.
Recently
identified
genetic
defect
in
PLS
has
been
mapped
to
chromosome
11
q
14
-
q
21
,
which
involves
mutations
of
cathepsin
C
.
This
paper
presents
a
report
of
2
cases
of
Papillon-lefevre
syndrome
in
which
diagnosis
is
based
on
clinical
presentation
and
genetic
mapping
.
