Papillon Lefèvre Syndrome: A Case Report and Review of Etiopathogenesis

Papillon Lefèvre Syndrome: A Case Report And Review Of Etiopathogenesis

Authors

  • Dipti A Tharani
  • Ritesh B Wadhwani

DOI:

https://doi.org/10.70284/njirm.v7i6.1405

Keywords:

Cathepsin C, Papillon Lefèvre syndrome, Periodontitis

Abstract

Papillon Lefèvre syndrome (PLS) is a very rare autosomal recessive disorder characterised by palmar-plantar hyperkeratosis and early onset periodontitis, leading to premature loss of both primary and permanent dentitions. Patients also have increased susceptibility to infections as manifested by association with liver abscess. Genetic studies have shown that the mutations of cathepsin C gene are responsible for this syndrome. Cathepsin C is an enzyme which processes and activates several granule serine proteinases critical to immune and inflammatory responses of myeloid and lymphoid cells. The other factors playing a role in pathogenesis of PLS include parental consanguinity and alteration of host defence. A case of PLS is presented with patient having characteristic lesions on the skin of palms and soles and edentulous upper and lower dental arches. Also, the etiopathogenesis of this less understood syndrome is reviewed. [Dipti T NJIRM 2016; 7(6): 114-116]

References

1. Hart TC, Shapira L. Papillon Lefèvre syndrome. Periodontol 2000 1994;6:88-100.
2. Almuneef M, Sultan Al Khenaizan, Sulaiman Al Ajaji, Abdullah Al-Anazi. Pyogenic liver abscess and Papillon-Lefèvre syndrome: not a rare association. Pediatrics 2003;111:e85-e88.
3. Shah AF, Tangade P, Agarwal S. Papillon-Lefèvre syndrome: Reporting consanguinity as a risk factor. The Saudi Dental Journal 2014;26:126-31.
4. 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.
5. Toomes C, James J, Wood AJ, CL Wu, 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.
6. Dickinson DP. Cystiene peptidases of mammals: Their biological roles and potential effects in the oral cavity and other tissues in health and diseases. Crit Rev Oral Biol Med 2002;13:238-75.
7. Selvaraju V, Markandaya M, Venkata P, Prasad S, Sathyan P, Sethuraman G et al. Mutation analysis of the cathepsin C gene in Indian families with Papillon-Lefèvre syndrome. BMC Medical Genetics 2003;4:5.
8. Clerehugh V, Drucker DB, Seymour GJ, Bird PS. Microbiological and serological investigations of
oral lesions in Papillon-Lefèvre syndrome. J Clin Pathol 1996;49:255-7.
9. de Haar SF, Hiemstra PS, van Steenbergen MTJM, Everts V, Beertsen W. Role of polymorphonuclear leukocyte – derived serine proteinases in defence against Actinobacillus actinomycetemcomitans. Infect Immun 2006;74:5284-91.
10. Bhavsar MV, Brahmbhatt NA, Sahayata VN, Bhavsar NV. Papillon-Lefèvre syndrome: Case series and review of literature. Journal of Indian Society of Periodontology 2013;17:806-11.

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Published

2018-02-08

How to Cite

Tharani, D. A., & Wadhwani, R. B. (2018). Papillon Lefèvre Syndrome: A Case Report and Review of Etiopathogenesis: Papillon Lefèvre Syndrome: A Case Report And Review Of Etiopathogenesis. National Journal of Integrated Research in Medicine, 7(6), 114–116. https://doi.org/10.70284/njirm.v7i6.1405

Issue

Section

Case Report