Papillon-Lefèvre Syndrome: 17-Year Dental Follow-Up. Case Report.

  • Miguel Melchor-Soto Division of Oral and Maxillofacial Radiology, School of Dentistry, Universidad Científica del Sur, Lima, Perú. http://orcid.org/0000-0001-5922-7451
  • Luis Ernesto Arriola-Guillén Division of Orthodontics and Division of Oral and Maxillofacial Radiology, School of Dentistry, Universidad Científica del Sur, Lima, Perú. http://orcid.org/0000-0003-0010-5948
  • Gustavo Armando Ruíz-Mora Division of Orthodontics and Division of Oral and Maxillofacial Radiology, School of Dentistry, Universidad Científica del Sur, Lima, Perú; Division of Orthodontics, Faculty of Dentistry, Universidad Nacional de Colombia, Bogotá D.C, Colombia. http://orcid.org/0000-0002-9954-1047
  • Yalil Augusto Rodríguez-Cárdenas Division of Oral and Maxillofacial Radiology, School of Dentistry, Universidad Científica del Sur, Lima, Perú; Division of Oral and Maxillofacial Radiology, School of Dentistry, Universidad Nacional de Colombia, Bogotá D.C, Colombia. http://orcid.org/0000-0002-3107-3013
  • Jesús Melchor-Soto Division of Odonto-pediatric Dentistry, School of Dentistry, Universidad Autónoma de Sinaloa, Culiacán, Sinaloa, México. http://orcid.org/0000-0003-0770-5997
  • José Romero-Quintana Faculty of Biological and Chemical Sciences, Postgraduate Program in Biotechnology and Postgraduate Program in Biomedical Sciences, Autonomous University of Sinaloa, Culiacán, Sinaloa, Mexico. http://orcid.org/0000-0003-2646-106X
  • Aron Aliaga-Del Castillo Department of Orthodontics, Bauru Dental School. University of São Paulo, Brazil. http://orcid.org/0000-0003-3963-1742

Abstract

Introduction: The present report describes the case of a 12-year-old patient with 17-year follow-up who was previously diagnosed with Papillon-Lefèvre Syndrome (PLS), which is a rare autosomal recessive irregularity in the cathepsin C gene (CTSC) characterized by palmoplantar hyperkeratosis and premature loss of primary and permanent teeth.
Case Report: A specific mutation in the c.203 T > G gene inducing loss of function leading to PLS was detected, as was a mutation in the HLA-DRB1*11 allele, which is associated with this syndrome. There is no consanguinity of the parents, and the siblings are entirely healthy. Early identification of the main characteristics of this syndrome is imperative. Accurate diagnosis by genetic analysis allows differential diagnoses and timely comprehensive dental treatment.
Conclusions: Additionally, it allows consultation with a dermatologist to maintain or improve the quality of life of patients with this condition due to progressive worsening and severity of the main physical manifestations.
Keywords: Papillon-Lefevre Disease; Keratoderma, Palmo-plantar; Cathepsin C; Periodontitis; Skin Diseases, Genetic; Case reports

References

[1]. Yu H, He X, Liu X, Zhang H, Shen Z, Shi Y, Liu X. A novel missense variant in cathepsin C gene leads to PLS in a Chinese patient: A case report and literature review. Mol Genet Genomic Med. 202;9(7):e1686. doi: 10.1002/mgg3.1686. Epub 2021 May 5. PMID: 33949806; PMCID: PMC8372118.

[2]. Ghanei M, Abbaszadegan MR, Forghanifard MM, Aarabi A, Arab H. A novel mutation in the cathepsin C (CTSC) gene in Iranian family with Papillon-Lefevre syndrome. Clin Exp Dent Res. 2021;7(4):568-573. doi: 10.1002/cre2.387. Epub 2021 Feb 14. PMID: 33586345; PMCID: PMC8404484.

[3]. Patil SM, Metkari SB, Shetty S, Thakkannavar S, Sarode SC, Sarode GS, Sengupta N, Patil S. Dental prosthetic rehabilitation of Papillon-Lefèvre syndrome: a case report. Clin Pract. 2020;10(3):1285. doi: 10.4081/cp.2020.1285. PMID: 33042508; PMCID: PMC7520704.

[4]. Giannetti L, Apponi R, Dello Diago AM, Jafferany M, Goldust M, Sadoughifar R. Papillon-Lefèvre syndrome: Oral aspects and treatment. Dermatol Ther. 2020;33(3):e13336. doi: 10.1111/dth.13336. Epub 2020 Apr 9. PMID: 32222110.

[5]. Atarbashi-Moghadam F, Atarbashi-Moghadam S, Kazemifard S, Sijanivandi S, Namdari M. Oral reha-bilitation of Papillon-Lefèvre syndrome patients by dental implants: a systematic review. J Korean Assoc Oral Maxillofac Surg. 2020;46(4):220-227. doi: 10.5125/jkaoms.2020.46.4.220. PMID: 32855368; PMCID: PMC7469965.

[6]. Abou Chedid JC, Salameh M, El-Outa A, Noujeim ZEF. Papillon-Lefèvre Syndrome: Diagnosis, Dental Management, and a Case Report. Case Rep Dent. 2019;2019:4210347. doi: 10.1155/2019/4210347. PMID: 31179131; PMCID: PMC6501246.

[7]. Romero-Quintana JG, Frías-Castro LO, Arámbula-Meraz E, Aguilar-Medina M, Dueñas-Arias JE, Melchor-Soto JD, Romero-Navarro JG, Ramos-Payán R. Identification of novel mutation in cathepsin C gene causing Papillon-Lefèvre Syndrome in Mexican patients. BMC Med Genet. 2013;14:7. doi: 10.1186/1471-2350-14-7. PMID: 23311634; PMCID: PMC3563609.

[8]. Sreeramulu B, Shyam ND, Ajay P, Suman P. Papillon-Lefèvre syndrome: clinical presentation and management options. Clin Cosmet Investig Dent. 2015;7:75-81. doi: 10.2147/CCIDE.S76080. PMID: 26203280; PMCID: PMC4507741.

[9]. Toomes C, James J, Wood AJ, Wu CL, McCormick D, Lench N, Hewitt C, Moynihan L, Roberts E, Woods CG, Markham A, Wong M, Widmer R, Ghaffar KA, Pemberton M, Hussein IR, Temtamy SA, Davies R, Read AP, Sloan P, Dixon MJ, Thakker NS. Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis. Nat Genet. 1999;23(4):421-4. doi: 10.1038/70525. PMID: 10581027.

[10]. Papillon M. Deux cas de keratodernune palmaire symmetrique famiale (Maladie de Meleda) chez Le frere et la soeur. Coexistece dans les deux cas d’alterations dentaires graves. BUll Soc Fr Dermatol Syp lt. 1924;31:82-4.

[11]. Nassani MZ, Al-Maweri SA, Veeraganta SK, Al-Shamiri HM, Alaizari NA, Najeeb S. Survival Rates of Dental Implants in Patients with Papillon-Lefévre Syndrome: A Systematic Review. J Contemp Dent Pract. 2021;22(1):93-100. PMID: 34002717.
Published
2023-08-23
How to Cite
MELCHOR-SOTO, Miguel et al. Papillon-Lefèvre Syndrome: 17-Year Dental Follow-Up. Case Report.. Journal of Oral Research, [S.l.], v. 12, n. 1, p. 119-126, aug. 2023. ISSN 0719-2479. Available at: <https://www.joralres.com/index.php/JOralRes/article/view/joralres.2023.011>. Date accessed: 19 may 2024. doi: https://doi.org/10.17126/joralres.2023.011.
Section
Cases