Papillon-Lefevre syndrome: A case report with a new laser assisted
RWTH Hospitl, Germany
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.
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
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.
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.
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.
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
root planning is recommended strongly.
Laser could be used as a tool which shows unique effects on micro/organisms especiallz in deep periodontiom
infections. Removing some layers of epithelium at the orifices of deep pocketes will prevent the growth of
these layers toward the sulcus and help the attachment and healing of periodontitis. In this case this effect
was obviously seen and this method would be repeated till the end of eruption of all permanent teeth.
1. Griffiths WAD, Judge MR, Leigh IM. Disorders of keratinization. In: Champion RH, Burton JL, Burns DA,
Breathnach SM editors. Textbook of Dermatology, 6th edn. Oxford: Blackwell Scientific Publications;
2. Bergman R, Friedman-Birnbaum R. Papillon- Lefevre syndrome a study of the long term clinical course
of recurrent pyogenic infections and the effects of etretinate treatment. Br J Dermatol 1998; 119: 131-136.
3. Robertson KL, Drucker DB, James J, Blinkhorn AS, Hamlet S, Bird PS. A microbiological study of
Papillon-Lefevre syndrome in two patients. J Clin Pathol. 2001 May;54(5):371-6.
4. Y. Huang, M. Umeda, Y. Takeuchi, M. Ishizuka, K. Yano-Higuchi and I. Ishikawa. Distribution of Bacteroides
forsythus genotypes in a Japanese periodontitis population. Oral Microbiol Immunol. 2003 Aug;18(4):208-14.
5. Hiroaki Kabashima, Masahiro Yoneda, Kengo Nagata, Kazuaki Nonaka, Takao Hirofuji and Katsumasa Maeda.
THE PRESENCE OF CYTOKINE (IL-8, IL-1 alpha , IL-1beta)-PRODUCING CELLS IN INFLAMED GINGIVAL TISSUE
FROM A PATIENT MANIFESTING PAPILLON-LEFEVRE SYNDROME (PLS). Cytokine. 2002 May 7;18(3):121-6.
6. Hart TC, Hart PS, Bawden DW, Michalec MD, Callison SA, Walker SJ, et al. Mutations of the cathepsin C gene
are responsible for Papillon-Lefevre syndrome. J Med Genet 1999; 36: 881-887.
7. Pacheco JJ, Coelho C, Salazar F, Contreras A, Slots J, Velazco CH. Treatment of Papillon-Lefevre syndrome
periodontitis. J Clin Periodontol. 2002 Apr;29(4):370-4.
8. Wiebe CB, Hakkinen L, Putnins EE, Walsh P, Larjava HS. Successful periodontal maintenance of a case with
Papillon-Lefevre syndrome: 12-year follow-up and review of the literature. J Periodontol. 2001 Jun;72(6):824-30.
9. Woo I, Brunner DP, Yamashita DD, Le BT. Dental implants in a young patient with Papillon-Lefevre syndrome:
a case report. Implant Dent. 2003;12(2):140-4.
10. Eickholz P, Kugel B, Pohl S, Naher H, Staehle HJ. A microbiological study of Papillon-Lefevre syndrome in
two patients. J Clin Pathol. 2001 May;54(5):371-6.
11. Battino M, Ferreiro MS, Bompadre S, Leone L, Mosca F, Bullon P. Elevated hydroperoxide levels
and antioxidant patterns in Papillon-Lefevre syndrome. J Periodontol. 2001 Dec;72(12):1760-6.
12. Cobb CM. Lasers in periodontics: a review of the literature. J Periodontol. 2006 Apr;77(4):545-64. Review.
13. Ishikawa I and Sculean A. Lasers in periodontics in: Gutknecht N et al. 1st proceeding of international
workshop of evidence based laser dentistry. Quintessence Ltd, 2007.
STUDENT EXCHANGE PROGRAMME (ISEP)
International Student Exchange Programme is one of the most
popular and important activities, which IADS organizes for
ISEP gives the
students the opportunity to spend some time , usually it is
between 2-6 weeks, at a dental school in another part of the
This scheme allows students to experience the foreign systems of
dentistry, new culture, language. Moreover it is another great
opportunity to meet
new people and their social life.
possible within the IADS member countries only. At the moment
members of IADS are: Bosnia, Croatia, Czech Republic, Denmark,
Egypt, Germany, Georgia, Ghana, Hungary, Italy, Kuwait,
Macedonia, Malta, Poland, Romania, Russia, Serbia, Slovenia,
Sudan, Turkey. But each IADS meeting brings us new countries
that join our family, what gives our students other new
possibilities to do an exchange.
Abroad is another undertaking for IADS members, as a result of a
cooperation with international organizations who provide dental
health care in different parts of the world.
This project is
addressed to dentists and students with clinical experience-
they can work under
Some of projects
are organized by local university or hospital and health
Depending on the
place, it is simply oral hygiene promotion, preventive dentistry
or simple treatment carried out.
By taking part in
this project volunteers not only can gather more experience but
also get to know closer new people from different cultures;
their behaviors, traditions, ways of life.
You have to
remember that participating in VWP you bring people in need hope
and joy. Your experience and knowledge are very important.
Patients trust you and you have to take full responsibility for
them and their treatment!
At the moment IADS
can offer projects in following countries:
There are about 100
Guatemalan workers and between 8-15 volunteers working and
living within the project. Volunteers have a place to live in a
small space in a gallery building overlooking the river, or in a
small Bungalow type house at the back of the project. There is
no electricity in the bungalows so be prepared to use candles or
lanterns for light at night to see by. The project will provide
you with a foam mattress to sleep on. There is also
ultra-violet water filter in the clinic so there is safe water
accommodations are simple. The experience is very enriching and
the area is beautiful.
Ak’ Tenamit is a
project in Guatemala, where dentists are needed.
Dentists or dental students – if there are any volunteers – work
on a boat. Main treatments: Amalgam and Composite fillings,
extractions (no x-ray, no prosthetics).
go to work in the „Angkor Hospital for children“.
works with Hospitals, Health and Medical Centers where
through Workcamp or MLTV programme. Some of these Centers have
that would be of great help to IADS members.
volunteer wishing to come to work/serve in our partner dental
unit need to have a good command/knowledge and skills in dental
profession and practice (both for dentists and students), though
others like nurses for support work at the unit.
Sudan, MEDICAL FIELD TRIP:
post- Congress in Sudan in 2006 participants had the chance to
partake in this project. We had great opportunity to work and
travel with dental students and dentists from University of
Khartoum. IADS visitors carried out simply treatment at
departments of conservative dentistry,
oral surgery, periodontology which, for time of
treatment, were located in small rooms. Simply prosthetic work
was also possible as there was area with small very basic
working in different villages.
seemed to be glad about us and we were happy seeing smile on
incredible experience will stay forever in our memory.
Volunteers may stay in government clinic or may rotate through
various clinics throughout the country. Volunteers have to spend
a minimum of 1 week in any one clinic but can transfer from
clinic to clinic. Nowadays at Sumbawanga Regional Hospital works
For more information please visit
You can all make