Título traducido de la contribución: Síndrome De Papillon-Lefèvre: Seguimiento Dental De 17 Años. Reporte De Caso

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

Producción científica: Contribución a una revistaArtículorevisión exhaustiva


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.

Título traducido de la contribuciónSíndrome De Papillon-Lefèvre: Seguimiento Dental De 17 Años. Reporte De Caso
Idioma originalInglés
Páginas (desde-hasta)119-126
Número de páginas8
PublicaciónJournal of Oral Research
EstadoPublicada - 4 abr. 2023


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