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Table of Contents
CASE REPORT
Year : 2021  |  Volume : 11  |  Issue : 2  |  Page : 101-105

Nonsurgical periodontal management of Papillon–Lefevre syndrome


1 Department of Periodontology, GDCRI, Bengaluru, Karnataka, India
2 Department of Oral Medicine and Radiology, GDCRI, Bengaluru, Karnataka, India

Date of Submission03-Aug-2020
Date of Acceptance13-Jan-2021
Date of Web Publication31-Aug-2021

Correspondence Address:
Dr. C N Guruprasad
Department of Periodontology, GDCRI, Fort, Bengaluru - 560 002, Karnataka
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/jid.jid_67_20

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   Abstract 


Papillon–Lefevre syndrome (PLS) is an autosomal recessive genetic disorder caused by a deficiency in Cathepsin C. It is characterized by palmoplantar keratosis and premature loss of both primary and permanent dentition. Patients 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


How to cite this article:
Guruprasad C N, Shankareswari T R, Jeethu MT, Basavarajappa S. Nonsurgical periodontal management of Papillon–Lefevre syndrome. J Interdiscip Dentistry 2021;11:101-5

How to cite this URL:
Guruprasad C N, Shankareswari T R, Jeethu MT, Basavarajappa S. Nonsurgical periodontal management of Papillon–Lefevre syndrome. J Interdiscip Dentistry [serial online] 2021 [cited 2021 Dec 3];11:101-5. Available from: https://www.jidonline.com/text.asp?2021/11/2/101/325111




   Clinical Relevance to Interdisciplinary Dentistry Top


  • This case report demonstrates interdisciplinary management of the patient with Papillon–Lefevre Syndrome.
  • The periodontal disease progression in PLS patients can be delayed by an early diagnosis and combined intensive mechanical and antimicrobial treatment with supportive periodontal care.



   Introduction Top


Papillon 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 alterations. If parents are carriers of the defective 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 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 Top


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 [Figure 1] and [Figure 2] and feet [Figure 3] and [Figure 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.
Figure 1: Keratotic plaque on the dorsal surface of the hand

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

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Figure 3: Keratotic plaque on the dorsal of the feet

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

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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 5: Generalized gingival inflammation with multiple periodontal abscess

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Figure 6: Orthophantomograph reveals generalised bone loss

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Figure 7: Lateral cephalogram showed retarded physical growth

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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 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 [Figure 8] and [Figure 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.
Figure 8: Clinical view at 6 months followup

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Figure 9: One year followup

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   Discussion Top


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 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 diagnosis of PLS and treatment protocol minimized the periodontal deterioration.


   Conclusion Top


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.



 
   References Top

1.
Ashri NY. Early diagnosis and treatment options for the periodontal problems in Papillon-Lefèvre syndrome: A literature review. J Int Acad Periodontol 2008;10:81-6.  Back to cited text no. 1
    
2.
Gorlin RJ, Sedano H, Anderson VE. The syndrome of palmar-plantar hyperkeratosis and premature periodontal destruction of the teeth. A clinical and genetic analysis of the Papillon-Lef'evre syndrome. J Pediatr 1964;65:895-908.  Back to cited text no. 2
    
3.
Hart TC, Shapira L. Papillon-Lefèvre syndrome. Periodontol 2000 1994;6:88-100.  Back to cited text no. 3
    
4.
Allende LM, Moreno A, de Unamuno P. A genetic study of cathepsin C gene in two families with Papillon-Lefèvre syndrome. Mol Genet Metab 2003;79:146-8.  Back to cited text no. 4
    
5.
Dhanrajani PJ. Papillon-Lefevre syndrome: Clinical presentation and a brief review. Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2009;108:e1-7.  Back to cited text no. 5
    
6.
Ullbro C, Crossner CG, Nederfors T, Alfadley A, Thestrup-Pedersen K. Dermatologic and oral findings in a cohort of 47 patients with Papillon-Lefèvre syndrome. J Am Acad Dermatol 2003;48:345-51.  Back to cited text no. 6
    
7.
Kellum RE. Papillon-Lefèvre syndrome in four siblings treated with etretinate. A nine-year evaluation. Int J Dermatol 1989;28:605-8.  Back to cited text no. 7
    
8.
Wani AA, Devkar N, Patole MS, Shouche YS. Description of two new cathepsin C gene mutations in patients with Papillon-Lefèvre syndrome. J Periodontol 2006;77:233-7.  Back to cited text no. 8
    
9.
Sollecito TP, Sullivan KE, Pinto A, Steward J, Korostoff J. Systemic conditions associated with periodontits in childhood and adolescence. A review of diagnostic possibilities. Med Oral Patol Oral Cir Bucal 2005;10:142-50.  Back to cited text no. 9
    
10.
Firatli E, Tüzün B, Efeoğlu A. Papillon-Lefèvre syndrome. Analysis of neutrophil chemotaxis. J Periodontol 1996;67:617-20.  Back to cited text no. 10
    
11.
Wara-aswapati N, Lertsirivorakul J, Nagasawa T, Kawashima Y, Ishikawa I. Papillon-Lefèvre syndrome: Serum immunoglobulin G (IgG) subclass antibody response to periodontopathic bacteria. A case report. J Periodontol 2001;72:1747-54.  Back to cited text no. 11
    
12.
Almuneef M, Al Khenaizan S, Al Ajaji S, Al-Anazi A. Pyogenic liver abscess and Papillon-Lefèvre syndrome: Not a rare association. Pediatrics 2003;111:e85-8.  Back to cited text no. 12
    
13.
Kola MZ. Prosthodontic management of Papillon-Lefevre syndrome with special focus on its characterization and diagnosis: A clinical report. J Adv Med Dent Sci Res 2014;2:97-104.  Back to cited text no. 13
    
14.
Haim S, Munk J. Keratosis palmoplantaris congenital, with periodontosis, arachnodactyly and peculiar deformity of terminal phalanges. Br J Dermatol 1965;77:42-54.  Back to cited text no. 14
    
15.
Oesterle LJ, Cronin RJ Jr., Ranly DM. Maxillary implants and the growing patient. Int J Oral Maxillofac Implants 1993;8:377-87.  Back to cited text no. 15
    


    Figures

  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6], [Figure 7], [Figure 8], [Figure 9]



 

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