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Case Report

Nonsurgical Periodontal Management of Papillon–Lefevre Syndrome

C. N. Guruprasad, T. R. Shankareswari, Maria Thomas Jeethu, Suman Basavarajappa1

Departments of Papillon–Lefevre syndrome (PLS) is an autosomal recessive genetic disorder

Abstract
Periodontology and 1Oral
Medicine and Radiology,
caused by a deficiency in Cathepsin C. It is characterized by palmoplantar
GDCRI, Bengaluru, keratosis and premature loss of both primary and permanent dentition. Patients
Karnataka, India are often edentulous at an early age. Other symptoms include increased
susceptibility to infections. Various etiologic factors such as genetic mutations,
immunologic alterations, and bacteria have been implicated. We present a case
report of 12‑year‑old female who reported to the dental clinic with a history
of pain and swollen gums. Family history revealed consanguinity. On clinical
examination, there was palmoplantar keratosis and examination of the oral cavity
showed generalized periodontal pockets, tooth mobility, and periodontal abscess.
Radiographic examination revealed generalized horizontal bone loss. Lateral
cephalogram revealed retarded somatic development. A diagnosis of PLS was
arrived based on history, clinical and radiological findings. Nonsurgical periodontal
treatment along with the treatment of skin lesions was performed. A combined
and intensive mechanical and antimicrobial treatment with supportive periodontal
treatment in PLS patients may halt the periodontal disease progression. The
dentists should be aware of the same because an early diagnosis of the syndrome
can help to preserve the teeth by the timely institution of treatment, using a
multidisciplinary approach.

Keywords: Alveolar bone loss, cathepsin C, palmoplantar keratosis,

periodontitis

Clinical Relevance to Interdisciplinary Dentistry

• This case report demonstrates interdisciplinary management of the patient with Papillon–
Lefevre Syndrome.
Received: 03 August 2020
• The periodontal disease progression in PLS patients can be delayed by an early diagnosis
Revised: 06 January 2021
Accepted: 13 January 2021
and combined intensive mechanical and antimicrobial treatment with supportive periodontal
Published: 31 August 2021 care.

Introduction alterations. If parents are carriers of the defective

P apillon and Lefevre, two French physicians in 1924
described Papillon–Lefevre syndrome (PLS) is a
rare autosomal recessive genetic disorder characterized
by palmoplantar hyperkeratosis, early onset of
periodontitis, and premature loss of both primary and
permanent teeth.[1] Dural calcification is added as a
diagnostic factor for this syndrome.[2]
The etiology of PLS is unknown but may be due to
virulent pathogens, inflammatory and immunologic
gene there might be 25% risk for their children to
have PLS. [3] It is usually diagnosed between the
ages of 1 and 4 years. Both males and females
are equally affected. In general, it affects 1–4 per
million of the population with a carrier rate of
Address for correspondence: Dr. C. N. Guruprasad,
Department of Periodontology, GDCRI, Fort, Bengaluru ‑ 560 002,
Karnataka, India.
E‑mail: drguru_75@yahoo.co.in

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DOI: How to cite this article: Guruprasad CN, Shankareswari TR, Jeethu MT,
10.4103/jid.jid_67_20 Basavarajappa S. Nonsurgical periodontal management of Papillon–Lefevre
syndrome. J Interdiscip Dentistry 2021;11:101-5.

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Guruprasad, et al.: Management of Papillon–Lefevre syndrome

2–4/1000. Other manifestations of this syndrome
include psoriasiform plaques of the elbows and
knees, nail changes, and recurrent pyogenic skin
infections. [4]
Case Report
A 12‑year‑old female patient reported to the Department
of Periodontology, with the chief complaint of pain and
swelling in the gingiva and difficulty in eating food.
Past dental history revealed that her deciduous teeth
had erupted normally, but there was early shedding.
A detailed family history revealed that the patient’s
parents were consanguineously married. She was the
first case affected in her family. Her sibling was not
affected.
On physical examination, the patient had
well‑demarcated, yellow whitish keratotic plaques on the
dorsal and ventral surface of her hands [Figures 1 and 2]
and feet [Figures 3 and 4]. She reported that she is under
regular visit to dermatologists as there were multiple
episodes of exacerbation and remission of skin lesions
and infections.
Intraoral examination revealed that the gingiva around
dentulous areas was inflamed, swollen, and tender
while the oral mucosa covering the edentulous area was
normal. The characteristic oral features include multiple
periodontal abscess, periodontal pockets, mobility of
teeth, drifting, migration, and exfoliation of teeth without
root resorption [Figure 5]. An orthopantamograph was
obtained which revealed generalized alveolar bone
loss in relation to permanent teeth up to the level of
the apical third of roots giving them a “floating in air”
appearance [Figure 6]. To assess somatic development,
lateral cephalogram was advised and it showed retarded
physical growth [Figure 7]. Laboratory investigations,
such as a complete blood count, blood chemistry profile,
and liver function tests, showed results essentially
within the normal limits. Based on the patient’s history,
clinical and radiological findings, PLS was diagnosed
and consanguinity was considered as a high‑risk factor.

Figure 1: Keratotic plaque on the dorsal surface of the hand Figure 2: Keratotic plaque on the ventral surface of the hand

Figure 3: Keratotic plaque on the dorsal of the feet Figure 4: Keratotic plaque on the ventral surface of the feet

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Guruprasad, et al.: Management of Papillon–Lefevre syndrome
Figure 5: Generalized gingival inflammation with multiple periodontal
abscess
Figure 7: Lateral cephalogram showed retarded physical growth
Case management
The main aim is to eliminate the load of microorganisms
causing periodontal destruction.[5] Considering the
patient’s socio‑demographic profile, the dental treatment
was planned. A multidisciplinary approach is of utmost
important for the overall care of the patient with PLS.
Following the treatment protocol proposed by Ullbro
et  al. periodontal destruction can be minimized. This
includes scaling and root planing; systemic antibiotics
to eliminate the bacterial burden of causative organisms;
extraction of hopeless teeth; giving instructions for
proper oral hygiene maintenance, frequent monitoring,
and recall appointments.[6]
After draining the periodontal abscess, oral prophylaxis
was performed. Patients as well as parents were
counseled and motivated to maintain proper oral hygiene.
Systemic antibiotic therapy, amoxicillin (250 mg,
3 times daily) and metronidazole (200 mg, 2 times daily)
for 1 week was instituted along with chemical plaque
control utilizing (0.2% chlorhexidine gluconate, 10 ml
twice daily) were prescribed to the patient to reduce
Journal of Interdisciplinary Dentistry  ¦  Volume 11  ¦  Issue 2  ¦  May-August 2021
Figure 6: Orthophantomograph reveals generalised bone loss
Figure 8: Clinical view at 6 months followup
bacterial burden.[7] In consultation with dermatologist,
treatment with Acitretin emollients and keratolytics was
initiated, which showed satisfactory improvement in the
keratoderma.
Clinical outcome
The patient was followed up for 1 year. At each follow‑up
visit, patient reported with improvement in function,
there was reduction in pain, bleeding from gingiva,
pocket depth and pus discharge [Figures 8 and 9].
By scheduled oral prophylaxis there was decrease in
bacterial load which helped in delaying the extraction
of some teeth. Patients attitudes and mental status
improved significantly over the period. Deep periodontal
pockets were planned to be treated by flap surgery in
the later phase. However prosthetic rehabilitation with
complete dentures or implants will be required in future,
depending on bone support and other factors.
Discussion
PLS is an extremely rare autosomal recessive inherited
disorder. It is characterized by symmetric palmoplantar
keratosis and early severe periodontitis affecting both
primary and permanent dentition caused mainly due
to mutations in Cathepsin C (CTSC) gene located
on chromosome 11q14.[8] Other features include
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Guruprasad, et al.: Management of Papillon–Lefevre syndrome
Figure 9: One year followup
hyperhidrosis, arachnodactyly, intracranial calcification,
increased susceptibility to infections, and mental
retardation.[9] It impairs the functional efficiency of the
patient and affects the quality of life.
Various etiologic factors include genetic mutations,
immunologic alterations, and bacteria. Genetic mutations
leading to the loss of function of the CTSC gene.
Impaired neutrophil function leads to the deregulation
of the polymorphonuclear leukocyte response to
microbial infection.[10] Serum immunoglobulin G titers
levels against Aggregatibacter actinomycetomcomitans
are elevated in individuals with PLS, indicating as a
causative factor.[11] Other Gram‑negative anaerobes such
as Porphyromonas gingivalis, Fusobacterium nucleatum,
Treponema denticola and virus such as Epstein‑Barr
virus not only have causal effects on the periodontitis
but also in the cutaneous lesions of PLS. Almuneef et al.
in 2003 added pyogenic liver abscess as an associated
complication.[12]
Due to premature loss of teeth; both maxillary and
mandibular alveolar ridges are highly resorbed resulting
in characteristic “denture face” appearance.[13] In
advanced cases, nail changes become more evident
and manifested as transverse grooving and ridging.[14]
Earlier, tooth loss was an inevitable sequel to PLS as the
course of the disease is unpredictable and the prognosis
is poor. The management of PLS remains challenge to
the dentist but with the development of new techniques
for identifying periodontal pathogens and with early
treatment preservation of permanent teeth can be
achieved.
Implants are contraindicated in subjects in growing
period since they act like submerged or ankylosed
teeth.[15] A stringent periodontal maintenance schedule is
of utmost importance to effectively monitor the patient’s
oral hygiene and should be able to intervene promptly
if signs of inflammation reoccur. In this case, an early
104 Journal of Interdisciplinary Dentistry  ¦  Volume 11  ¦  Issue 2  ¦  May-August 2021
diagnosis of PLS and treatment protocol minimized the
periodontal deterioration.
Conclusion
A combined and intensive mechanical and antimicrobial
treatment with supportive periodontal treatment in PLS
patients may halt the periodontal disease progression.
The dentist should be aware of the same because an
early diagnosis of the syndrome can help preserve the
teeth by the timely institution of treatment, using a
multidisciplinary approach.
Declaration of patient consent
The authors certify that they have obtained all
appropriate patient consent forms. In the form the
patient(s) has/have given his/her/their consent for his/
her/their images and other clinical information to be
reported in the journal. The patients understand that their
names and initials will not be published and due efforts
will be made to conceal their identity, but anonymity
cannot be guaranteed.
Financial support and sponsorship
Nil.
Conflicts of interest
There are no conflicts of interest.
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