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 Table of Contents  
Year : 2016  |  Volume : 5  |  Issue : 2  |  Page : 108-111

Papillon–lefevre syndrome: A dilemma for the dentist

1 Department of Periodontics, Government Dental College and Hospital, Patiala, Punjab, India
2 Department of Orthodontics, Dr. Harvansh Singh Judge Institute of Dental Sciences and Hospital, Chandigarh, Haryana, India
3 Civil Hospital, Ambala City, Haryana, India

Date of Web Publication25-Oct-2016

Correspondence Address:
Deepak Kumar Gupta
Department of Orthodontics, Dr. Harvansh Singh Judge Institute of Dental Sciences and Hospital, Chandigarh
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/2277-4696.192977

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Papillon–Lefevre syndrome (PLS) is a rare autosomal recessive disorder characterized by palmoplantar keratinization and premature loss of both primary and permanent dentition. Patients are often edentulous at an early age. Therefore, the dentist should be aware of the same because an early diagnosis of the syndrome can help preserve the teeth by early institution of treatment, using a multidisciplinary approach. Here, we present a case of PLS, along with a comprehensive review of the etiology, clinical features, and management of the condition.

Keywords: Early onset hyperkeratosis, palmar-plantar hyperkeratosis, Papillon–Lefevre syndrome

How to cite this article:
Sharma H, Gupta DK, Tayal N. Papillon–lefevre syndrome: A dilemma for the dentist. J Dent Allied Sci 2016;5:108-11

How to cite this URL:
Sharma H, Gupta DK, Tayal N. Papillon–lefevre syndrome: A dilemma for the dentist. J Dent Allied Sci [serial online] 2016 [cited 2023 Jun 5];5:108-11. Available from: https://www.jdas.in/text.asp?2016/5/2/108/192977

  Introduction Top

Papillon–Lefevre syndrome (PLS) is a rare autosomal recessive disorder of keratinization characterized by palmoplantar hyperkeratosis, peridontopathy, and early loss of dentition. In 1924, two French physicians Papillon and Lefevre described a brother and sister with a condition characterized by palmoplantar hyperkeratosis associated with severe, early onset of periodontitis and premature loss of primary and permanent teeth.[1],[2],[3],[4],[5] Gorlin et al. in 1964[6] have added the third component of dural calcification for making diagnosis of this syndrome. The inheritance is autosomal recessive, and consanguinity is a notable feature in many patients. A genetic predisposition with greater frequency of occurrence in consanguineous offspring has been reported.[2] It may be attributed to high rate of consanguineous marriages in Arab communities.[7] Other features of the syndrome which have been reported less frequently, include psoriasiform plaques of the elbows and knees, nail changes, calcification of the dura, and recurrent pyogenic skin infections.[8],[9],[10] This disease usually has its onset between the ages of 1 and 4 years. Males and females are equally affected. There is no racial predominance. Its prevalence is estimated to be 1–4 per million in the general population with a carrier rate of 2–4 per 1000 with no sexual predominance.[11],[12] Here, we report a case of PLS in a 19-year-old girl. She was the only member affected in her family.

  Case Report Top

A 19-year-old female patient presented to the Department of Prosthodontics, complaining of esthetic problems, difficulty in eating, and loss of permanent teeth. Past dental history revealed loss of permanent teeth 3 year back due to excessive mobility and also early shedding of deciduous dentition.

Intraoral examination revealed the presence of maxillary and mandibular second molars only. The gingiva around the teeth was inflamed, swollen, and tender while the oral mucosa covering the edentulous area appeared normal [Figure 1]. On physical examination, the patient was noted to have well-demarcated, yellow keratotic plaques on her palms and soles bilaterally with a spillover onto the dorsal surface of the hands and feet [Figure 2]a and [Figure 2]b. Based on the history and clinical findings, a provisional diagnosis of PLS was made. A panoramic radiograph was obtained which revealed generalized alveolar bone loss [Figure 3].
Figure 1: Intraoral view

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Figure 2: (a) Palmar keratosis, (b) plantar keratosis

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Figure 3: Orthopantomogram

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  Discussion Top

PLS is a rare syndrome that beholds significant social, esthetic, and psychological implications for not only those affected but also their family members. It adversely impacts the functioning and quality of life of the affected individuals. In view of the above, early dental evaluation and parental counseling are crucial to ensure complete psychosocial rehabilitation for PLS children. A multidisciplinary approach involving close collaboration between dentists and dermatologists can improve the prognosis and quality of life of the affected individuals. PLS is a rare disorder that is inherited in an autosomal recessive manner, that is, both parents are phenotypically healthy, and there is no family history of the disease, other than the affected person and possibly some siblings. Both parents must carry the autosomal gene for the syndrome to appear in their offspring. When two such carriers mate, there is a 25% chance of producing an affected offspring. The etiology of PLS is still unknown. Following factors have been proposed:

  1. Impairment of neutrophil chemotaxis, phagocytosis, and bactericidal activities accompanied in by a decrease cell migration [13],[14]
  2. Virulent Gram-negative anaerobic pathogens (actinobacillus actinomycetemcomitans) in the periodontal plaques and in periodontal pockets might act as trigger factors [15]
  3. Dysfunction of immune system including reduced lymphocyte response to pathogens, depression of helper/suppressor T cells ratio, deficient monocytic function, elevation of serum IgG, and degenerative changes of plasma cells.[16],[17]

PLS is suggested to be because of mutation in cathepsin C gene [18],[19] located on chromosome 11q14.1-q21. This cathepsin C gene encodes for lysosomal cysteine protease known as dipeptidyl peptidase. It removes dipeptides from amine terminals of the protein substrates. This gene is expressed in epithelial regions and in various immune cells such as PMNLs, macrophages, and their precursors.

Lysosomal protease enzyme plays an important role in maintaining the balance between oral microflora and immune system through protein degradation and proenzyme activation. Mutation in this enzyme leads to altered host response to pathogenic microorganisms in dental plaque. It is documented in literature that alterations in cathepsin C gene lead to prepubertal periodontitis in PLS patients.[20],[21],[22]

Beside genetic predisposition, certain environmental factors such as viral and bacterial infections of actinobacillus actinomycetemcomitans, capnocytophaga, cytomegalovirus, and Epstein–Barr virus also play an important role in prepubertal periodontitis of PLS patients.[23],[24]

Along with the above, altered function of monocytes, lymphocytes, reversed ratio of T helper and T killer cells, disruption of fibroblast and cementoblast function with defective periodontal ligament attachment, and gingival epithelium.[25],[26]

All this accumulated evidence indicate that etiopathogenesis of PLS is a complex interaction between immune-mediated deficiencies in the host defense mechanism and inherited genetic defects.

Ullbro et al. in 2003 found no association between the degree of palmoplantar hyperkeratosis and severity of periodontitis, suggesting that these two major components of PLS are not related to one another.[27]

PLS should also be differentiated from other conditions such as acrodynia, hypophosphatasia, histiocytosis X, leukemia, cyclic neutropenia associated with periodontitis, and premature loss of teeth. In all the above-mentioned conditions, palmoplantar hyperkeratosis is not a feature.

PLS should also be differentiated from conditions causing palmoplantar hyperkeratosis such as Howel-Evans syndrome, keratosis punctata, Vohwinkel syndrome, and Greither's syndrome. In these conditions, periodontitis is not a characteristic feature as in PLS.

Various factors contributing to etiopathogenesis of this disease ensure that successful treatment of rapid periodontal destruction seen in this syndrome remains a challenging problem. A definite treatment regimen is not yet reported; however, to control periodontal destruction, several treatment modalities have been suggested such as conventional periodontal therapy, oral hygiene instructions, and systemic antibiotics. Further research is required for defining a treatment strategy that can save the smiles of these children. Newer therapeutic modalities involve the use of oral retinoids such as acitretin, isotretinoin, and etretinate have been reported to be beneficial in treating both the cutaneous and dental defects in PLS.[28] An important point to note is that if retinoid therapy is started during the eruption of the permanent teeth, it can result in the development of normal dentition. Usually, the periodontitis is difficult to control once it manifests in PLS.[29],[30]

In the future, stem cell therapy can be expected to open up new vistas in the dental treatment of such children.

  Conclusion Top

PLS threatens children and their parents with the prospect of edentulism if left untreated. Hence, early diagnosis and intervention are essential. Many treatment strategies have been evaluated for functional and esthetic dentition in dental practice. Damage of the primary or permanent dentition in PLS patients is an inevitable outcome of the disease. Complete oral rehabilitation by improving the oral hygiene and replacement of all the missing teeth can greatly reduce the morbidity and improve the lifestyle of the patient. Prosthetic replacement in PLS is age specific, specialty job involving initial replacement with complete or partial denture with future consideration for implant supported prosthesis.[31] Awareness of this syndrome is essential, if the dentist is to provide appropriate and comprehensive dental care.

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Conflicts of interest

There are no conflicts of interest.

  References Top

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Yagmur A, Yilmaz G, Ertan U, Ikizoglu E, Ozkasap S, Karacan C. Papillon Lefevre syndrome: A case report. Int Pediatr 2004;19:224-5.  Back to cited text no. 3
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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. 6
Khoury SA, Massad DD. Consanguineous marriage in Jordon. Am J Med Genet 1992;43:206-10.  Back to cited text no. 7
Angel TA, Hsu S, Kornbleuth SI, Kornbleuth J, Kramer EM. Papillon-Lefevre syndrome: A case report of four affected siblings. J Am Acad Dermatol 2002;46 2 Suppl: S8-10.  Back to cited text no. 8
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. 9
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Toomes C, James J, Wood AJ, Wu CL, McCormick D, Lench N, et al. Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis. Nat Genet 1999;23:421-4.  Back to cited text no. 20
Gorlin RJ. Of palms, soles, and gums. J Med Genet 2000;37:81-2.  Back to cited text no. 21
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  [Figure 1], [Figure 2], [Figure 3]


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