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

Miguel Melchor-Soto; Luis Ernesto Arriola-Guillén; Gustavo Armando Ruíz-Mora; Yalil Augusto Rodríguez-Cárdenas; Jesús Melchor-Soto; José Romero-Quintana; Aron Aliaga-Del Castillo

doi:10.17126/joralres.2023.011

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

DOI: https://doi.org/10.17126/joralres.2023.011

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

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