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 Table of Contents  
CASE REPORT
Year : 2022  |  Volume : 13  |  Issue : 3  |  Page : 134-137

Oral management of poorly understood Papillon–Lefèvre syndrome – A case report


1 Department of Periodontology, HP Government Dental College and Hospital, Shimla, Himachal Pradesh, India
2 Department of Prosthodontics, HP Government Dental College and Hospital, Shimla, Himachal Pradesh, India
3 Department of Oral Medicine and Radiology, Surendera Dental College and Research Institute, Sri Ganganagar, Rajasthan, India

Date of Submission15-Mar-2022
Date of Decision27-Jul-2022
Date of Acceptance29-Jul-2022
Date of Web Publication09-Sep-2022

Correspondence Address:
Dr. Deepak Sharma
Departments of Periodontology, HP Government Dental College and Hospital, Shimla, Himachal Pradesh
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/srmjrds.srmjrds_40_22

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  Abstract 

Rationale: Papillon-Lefèvre syndrome (PLS) is a rare genodermatosis with autosomal-recessive genetic inheritanceand has features mainly palmoplantar hyperkeratosis and rapidly progressing severe periodontitis leading to early loss of deciduous and permanent dentition. Patient Concerns: The patient in the presented report was concerned with loose teeth, gingival bleeding and oral malodour and wanted to get missing teeth replaced. Diagnosis: The diagnosis was made based on medical history, clinical and radiological findings. Interventions: Periodontal phase I therapy included extraction of hopeless teeth, manual and ultrasonic scaling, mechanical and chemical plaque control and periodic maintenance. Missing teeth were restored by removable and fixed prosthesis. Dermatological lesions were conservatively managed. Outcomes: A comprehensive treatment stabilised periodontal disease of the patient and prosthetic rehabilitation improved oral health related quality of life of PLS patient. Lessons: PLS patients require an early diagnosis and a team approach for dermatological, periodontal complications and prosthetic rehabilitation.

Keywords: Cathepsin C, genodermatosis, keratoderma, Papillon–Lefèvre syndrome, periodontitis


How to cite this article:
Sharma D, Changra N, Kharbanda P, Negi S, Mahajan A, Sachdeva SK. Oral management of poorly understood Papillon–Lefèvre syndrome – A case report. SRM J Res Dent Sci 2022;13:134-7

How to cite this URL:
Sharma D, Changra N, Kharbanda P, Negi S, Mahajan A, Sachdeva SK. Oral management of poorly understood Papillon–Lefèvre syndrome – A case report. SRM J Res Dent Sci [serial online] 2022 [cited 2022 Oct 6];13:134-7. Available from: https://www.srmjrds.in/text.asp?2022/13/3/134/355825


  Introduction Top


Papillon–Lefèvre syndrome (PLS) was first described by two French physicians Papillon and Lefevre in 1924.[1] It is an extremely rare genodermatosis with autosomal recessive genetic inheritance. There is an increased incidence of PLS in consanguineous offsprings. PLS is caused by a genetic defect that has been linked to chromosome 11q14-q21 involving a mutation in the gene encoding lysosomal cathepsin C (CTSC) activity. CTSC gene expresses predominantly in the epithelial regions such as palms, soles, knees, and keratinized oral gingiva.[2],[3] The PLS has multifactorial etiology with genetic, immunological, and microbial factors. Altered functions of leukocytes such as monocytes, lymphocytes, and neutrophils increase the severity of disease.[4],[5]

PLS is characterized by dermatological findings, namely palmoplantar keratoderma and oral findings, namely early loss of deciduous and permanent dentition and other gingival problems. Sharply demarcated keratotic plaques occur focally involving the surface of the palms and soles. Furthermore, there are well-demarcated psoriasiform plaques occurring on the elbow and knees. Hyperhidrosis results in foul-smelling palms and soles. Findings may worsen in winter and can be associated with painful fissures.

Major oral feature of PLS is severe periodontitis. Primary dentition usually exfoliates early before the age of 4 years. With the eruption of permanent dentition, the process of periodontal destruction is usually repeated. Third molars remain sometimes unaffected. There is generalized destruction of the alveolar bone which results in reduced vertical dimension of occlusion, resulting in characteristic “denture face” appearance.[6]

We report the case of PLS highlighting the importance of multidisciplinary treatment and long-term maintenance therapy.


  Case Report Top


A 21-year-old male patient visited the Periodontology department with the chief complaint of unesthetic appearance, bad breath, difficulty in eating, multiple loose teeth, and premature loss of permanent teeth. The patient also gave a history of mobile deciduous teeth and early exfoliation soon after complete eruption. The patient could not maintain good oral hygiene due to mobile teeth with associated gingival swelling and bleeding along with pain and discomfort on chewing. He also experienced thickening and scaling of the skin of the palms and soles since childhood, which worsened during winter season. His sibling also presented similar but minor skin and oral condition. A written consent was obtained from patient before proceeding for investigations, diagnosis, and treatment of the patient.

On physical examination, the patient had senile facial appearance. The patient presented with well-demarcated, keratotic plaques yellow in color bilaterally on his palms and soles with dorsal extensions. Well-circumscribed, psoriasiform, erythematous, and scaly plaques were present bilaterally on the elbows and knees. Nails also appeared thickened, yellow, brittle, crumbly, and ragged [Figure 1]. Intraoral examination revealed that in the maxillary right quadrant central incisor, second molar, and in the left quadrant lateral incisor, canine, second premolar, and second molar teeth were missing. In the mandible, the central incisors, lateral incisors, second molars of both quadrants, and right first premolar teeth were missing. All the remaining teeth exhibited Grade 2 mobility due to moderate-to-severe periodontal and alveolar bone loss. In the oral cavity, generalized plaque accumulation, cervical caries along with moderate halitosis was noted. Moderate halitosis was also noticed. The gingiva around the teeth was inflamed, swollen, and tender along with generalized recession, deep periodontal pockets, and bleeding on probing [Figure 2]. The mucous membrane covering the edentulous area was clinically healthy. Routine hematological and liver ultrasound investigations were carried out and found normal. Genetic testing was not available at our center and hence could not be performed. A diagnosis of PLS was made based on medical and dental findings. Intraoral periapical radiographic views showed a moderate-to-severe alveolar bone loss. Definite lamina dura was absent around all mobile teeth [Figure 3]. In the emergency phase, extraction of severe mobile teeth was done to preserve alveolar bone. The patient was prescribed a combination of amoxicillin and metronidazole tablets thrice daily for 10 days and a 0.2% chlorhexidine oral rinse twice daily. Phase I therapy involved oral prophylaxis including supragingival and subgingival debridement. After periodontal Phase 1 therapy, fixed partial denture in relation to maxillary and mandibular anterior teeth and removable denture in relation to the left maxillary premolar and right mandibular premolars were provided as a part of Phase III prosthetic rehabilitation [Figure 4]. The multidisciplinary dental treatment significantly improved the oral health-related quality of life of the patient. Regular Phase IV follow-up program was continued for the patient. Dermatologist's opinion was taken for the management of the cutaneous lesions. The patient was conservatively managed and was put on skin lubricants and topical steroids.
Figure 1: Bilateral yellow keratotic plaques on the palms with extension onto the dorsal surface of the hands and feet

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Figure 2: Severe periodontal inflammation and bone loss in present teeth and premature exfoliation of many permanent teeth

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Figure 3: Intraoral periapical radiographic views showed extensive alveolar bone loss in all present teeth and premature exfoliation of many permanent teeth

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Figure 4: Prosthetic rehabilitation with fixed and removable partial dentures

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  Discussion Top


PLS is an uncommon multisystem affecting syndrome with autosomal recessive genetic inheritance and has features mainly palmoplantar hyperkeratosis and rapidly progressing severe periodontitis, leading to early loss of deciduous and permanent dentition. The PLS has multifactorial etiology, with genetic, immunological, and microbial cofactors. Additional contributing aspects are environmental and compromised host defense mechanisms, leading to the altered function of various leukocytes. Haneke reviewed 124 PLS cases and concluded that there is no gender and racial predominance; there is increased infection susceptibility besides periodontitis in one-fourth of the PLS patients and consanguinity is a feature in one-third of the patients.[7] In PLS patients, mutation of CTCS is present resulting in failure to activate immune response proteins. PLS, Haim–Munk syndrome, and prepubertal periodontitis seem to be allelic variants.

The different mechanisms for severe periodontal destruction include deficient neutrophil functions but a normal neutrophils. Lack of protease 3 activation leads to antimicrobial and immunomodulatory functional deficiency of human cathelicidin in PLS patients. This leads to severe periodontal destruction caused by key periopathogens which is further aggravated by the release of a high level of pro-inflammatory cytokines.[8] Microbiological studies have demonstrated many virulent keystone pathogens which are responsible for microbial dysbiosis and dysregulated immune system involved in the oral disease process.[6],[7],[8] Radiograph of jaws shows radiolucency surrounding roots of several teeth. Loss of the alveolar bone results in absent, drifted, or “free-floating” teeth. Intracranial calcification of dura mater which is rarely detected on skull radiograph is added as another component of PLS.[9] Decreased neutrophil, lymphocytes or monocytes function, and increased susceptibility to bacteria are associated with recurrent pyogenic infection of the skin. Pyogenic liver abscess is one of the complications of PLS due to an impaired immune system.

The therapeutic goal for dermatological lesions in PLS patients is to remove superficial callus from fissures and cracks to maintain functions and relieve pain. Treatment includes topical application of anti-inflammatory steroids, lubricants, and systemic antibiotics. The use of antiperspirants and deodorants is useful for hyperhidrosis. Long-term use of oral retinoids is more effective in the treatment of PLS and in preventing early teeth exfoliation.

The aim of periodontal treatment is to reduce the oral microbial burden and create a healthy environment for teeth eruption. The treatment modalities include intensive Phase I periodontal therapy and long-term periodontal maintenance comprising home care oral hygiene, supra and subgingival scaling, systemic antibiotics, extraction of hopeless teeth, and restoration of permanent dentition under antibiotic prophylaxis. Oral rehabilitation using partial or complete dentures to restore masticatory function in adults goes a long way in improving oral health-related quality of life of PLS patients. A multidisciplinary approach is required for the management of patients with PLS. The present case had aggressive periodontitis with severe periodontal and alveolar bone loss. He had lost multiple teeth when he reported to us. A comprehensive treatment plan was devised. Nonsurgical periodontal treatment with manual and ultrasonic instruments removed the plaque and calculus accumulation and was successful in stabilizing the disease and restoring the periodontal health. The oral rehabilitation was done with a removable and fixed prosthesis. A comprehensive treatment stabilized periodontal disease of the patient and prosthetic rehabilitation improved oral health-related quality of life of PLS patients. The present case highlights the importance of a team approach involving the coordination of dermatologists, pediatricians, periodontists, endodontists, and prosthodontists, which reduces the psychological burden on patients with PLS and improves their quality of life.


  Conclusion Top


The diagnosis of PLS is made through clinical examination and medical and dental history. Diagnosis during the early stages of the disease and comprehensive treatment are the key factors to attain periodontal stability, prevent aggressive periodontitis, and tooth loss.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient has given his consent for his images and other clinical information to be reported in the journal. The patient understands that his name and initials will not be published and due efforts will be made to conceal his identity, but anonymity cannot be guaranteed.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
  References Top

1.
Hattab FN. Papillon-Lefèvre syndrome: From then until now. Stomatological Dis Sci 2019;3:1.  Back to cited text no. 1
    
2.
Abou Chedid JC, Salameh M, El-Outa A, Noujeim ZE. Papillon-Lefèvre syndrome: Diagnosis, dental management, and a case report. Case Rep Dent 2019;2019:4210347.  Back to cited text no. 2
    
3.
Cury VF, Costa JE, Gomez RS, Boson WL, Loures CG, De ML. A novel mutation of the cathepsin C gene in Papillon-Lefèvre syndrome. J Periodontol 2002;73:307-12.  Back to cited text no. 3
    
4.
Hattab FN, Rawashdeh MA, Yassin OM, al-Momani AS, al-Ubosi MM. Papillon-Lefèvre syndrome: A review of the literature and report of 4 cases. J Periodontol 1995;66:413-20.  Back to cited text no. 4
    
5.
Hart TC, Hart PS, Bowden DW, Michalec MD, Callison SA, Walker SJ, et al. Mutations of the cathepsin C gene are responsible for Papillon-Lefèvre syndrome. J Med Genet 1999;36:881-7.  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.
Haneke E. The Papillon-Lefèvre syndrome: Keratosis palmoplantaris with periodontopathy. Report of a case and review of the cases in the literature. Hum Genet 1979;51:1-35.  Back to cited text no. 7
    
8.
Eick S, Puklo M, Adamowicz K, Kantyka T, Hiemstra P, Stennicke H, et al. Lack of cathelicidin processing in Papillon-Lefevre syndrome patients reveals essential role of LL-37 in periodontal homeostasis. Orphanet J Rare Dis 2014;9:148.  Back to cited text no. 8
    
9.
Jose J, Bartlett K, Salgado C, Gutierrez NM. Papillon-Lefèvre syndrome: Review of imaging findings and current literature. Foot Ankle Spec 2015;8:139-42.  Back to cited text no. 9
    


    Figures

  [Figure 1], [Figure 2], [Figure 3], [Figure 4]



 

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