Papillon-Lefevre syndrome: A case report with a new laser assisted
treatment method
Vol - I I Number- II July 2007
Maziar
MIR,
Assistant Prof,
RWTH Hospitl, Germany
Abstract
Background: A 3.5 year old girl patient presented with 10 missing and 6 mobile primary teeth
in April 1998. Physical examinations revealed palmar and plantar hyperkeratosis. No other
physical, mental or laboratory disorder was found. Dental examinations showed severe
generalized gingival attachment loss in both dental arches. There was a root exposure around
Methods: Clinical, radiographic, histopathological and microbiological examinations were
carried out. Blood was taken for mutation analysis of the cathepsin C gene. Based on the
outcome of the microbiological test the patient was treated with daily chlorhexidine mountrinse.
All primary teeth were extracted to prevent re-infection. A diode laser (970 nm, 2 W, 20 Hz)
was selected for de-epithelialization of free gingival margins additional to the sulcus
Results: The patient was treated successfully and no signs of relapse were present during
the last recall.. Mutation analysis of the cathepsin C gene confirmed that the patient described
in this paper is a Papillon-Lefevre syndrome patient. Mutation analysis revealed a novel
mutation(1212 A G;405 His Arg) in the cathepsin C gene. The laser treatment additional to
periodical scaling and root planning is successful to save the 12 erupted permanent teeth
till the age of 12 while the patient was last time visited on 27th July 2007.
Conclusions: Careful screening for the appropriate antibiotic and excellent oral hygiene
successfully lead to the preservation of the permanent dentition.
KEY WORDS
INTRODUCTION
Papillon-Lefevre syndrome (PLS) is a rare autosomal recessive disorder. Its reported
incidence is 1-4 per million and both the sexes are equally affected 1. PLS is characterised
by palmo-plantar hyperkeratosis, periodontopathy and premature loss of deciduous as well as
permanent dentition. It manifests between 1-5 year of life and the patient becomes edentulous
in the early teens. Another component of PLS is asymptomatic ectopic calcification in choroid
plexus and tentorium. About 20% of these patients also show an increased susceptibility to
infections probably due to dysfunction of lymphocytes and leukocytes 2. PLS is diagnosed mainly
clinical. PLS patients usually have very complex subgingival flora which includes the presence of
Actinobacillus actinomycetemcomitans, capnophilic and Capnocytophaga spp 3. In a PCR study the
Bacteroides, in particular Bacteroides forsythus were associated with different types of
periodontitis 4. It was mentioned by Kabashima et al 5 that IL-8, IL-1alpha and IL-1beta
cytokines may be responsible for modulating the process of rapidly progressive periodontitis in a
patient with PLS 5 . Papillon-Lefevre syndrome is caused by mutations in the gene encoding
cathepsin C. This gene is located on chromosome 11. Up to now 43 different mutations have been
described in PLS patients. The conventional mechanical treatment of Papillon-Lefèvre syndrome
periodontitis has a poor prognosis. Up to now, nearly no successful treatment that saved the
permanent dentition in PLS patients has been described. The most optimistic papers described an
extraction of all the deciduous teeth followed by a period of edentulousness. The edentulous period
may explain the fact that there has been no recurrent attachment loss in the permanent teeth up to
age 17 8. After this age all the treatments are shifting to use of dental implants and complete
dentures as the best solution of this problem.9
In this study a complete clinical, radiological, pathological and genetic diagnosis is performed on
a PLS patient. An excellent oral hygiene, professional periodontal treatment and selective antibiotic
therapy were used to treat the patient. The patient was successfully treated and the permanent dentition
of this patient could be preserved. Currently, Cobb concluded from the literature some clinical evidence
that shows some wave lengths of laser could be helpful for periodontal sockets decontamination.12
Ishikawa and Sculean published a review article on 2007 showing the successful results of diode laser
assisted de-epithelializing and sulcus decontamination therapies. 13
MATERIALS AND METHODS
Clinical Findings
A 3.5 year old girl patient presented with 10 missing and 6 mobile primary teeth in April 1998. Physical
examinations revealed palmar and plantar hyperkeratosis. No other physical, mental or laboratory disorder
was found. Dental examinations showed severe generalized gingival attachment loss in both dental arches.
There was a root exposure around all present teeth. Radiographic Findings Severe bone loss was evident in
panoramic and occlusal radiographs.
Microbiological Findings
The early antibiogram detection showed cephalexine as the antibiotic of choice for
the disease. The result of cultures revealed the predominant presence of Bacterioids. Histopathologhy:
Hypercementosis and inflamatory reactive (fibrosis) hyperplasia was observed in the slides of the
involved teeth and surronding tissues, respectively.
Genetic Analysis
By the use of PCR we amplified the 7 exons of cathepsin C by using the primers previously described by
other groups. After the PCR process we confirmed the presence of the PCR product by 2% agarose gel
electrophoresis. The PCR products were purified by using columns and the concentration of the DNA was
determined spectophotometrically. For the sequence reaction we used the same primers as for the PCR reaction
and the reaction was carried out using the BigDye Terminator mix. The data were automatically collected and
analysed by the software of the Sequencer.
The sequences were compared with the published cathepsin C sequence. A nucleotide 1212 A G mutation in the
cathepsin C gene was found, which was predicted to result in an amino acid 405His Arg mutation. The mutation was
confirmed by the use of restriction enzyme analysis performed on exon 7. The nucleotide mutation has not been
reported previously. The alteration of the Histidine at position 405 has been demonstrated in a Pakistani
family with PLS.
Treatments and Follow-Ups
The patient was treated with a daily chlorhexidine mouth rinse. To eliminate the source of infection all primary
teeth were extracted in June 1998. Early antibiogram to select the best antibiotic for recommending after
extraction of teeth prevents the furture infection and need to antibiotic therapy before the eruption
of permanent teeth.
Follow-up
The infection was successfully controlled. The patient was reevaluated clinically and paraclinically
and no future antibiotic therapy was needed. The permanent incisors and first molars have erupted under good oral
hygiene care. During the last recall (November 2003) no significant finding were reported in the panoramic X-ray.
We conclude that the microbiological tests may be a powerful tool to select the proper antibiotic for a successful
treatment of a Papillon-Lefevre syndrome patient. Also, as the last laser assisted treatment on 27th
July 2007 showed successful acceptance of patient, this new method as assistant to routine scaling and