Papillon–Lefèvre syndrome

Muhad Noorman P – Dentowesome 2020

Papillon–Lefèvre syndrome (PLS) is a rare autosomal recessive disorder, characterized by diffuse palmoplantar keratoderma (hyperkeratosis) and precocious aggressive periodontitis, leading to premature loss of deciduous and permanent dentition at a very young age. Various etiopathogenic factors are associated with the syndrome, like immunologic alterations, genetic mutations, and the role of bacteria. Dentists play a significant role in the diagnosis and management of PLS as there are characteristic manifestations like periodontal destruction at an early age and an early eruption of permanent teeth. Here, we are presenting an elaborate review of PLS, its etiopathogenesis, clinical presentation, and management options.

Genetic studies of patients with Papillon-Lefèvre syndrome have mapped the major gene locus to chromosome 11q14-q21 and revealed mutation and loss of function of the cathepsin C gene. This gene is important in the structural growth and development of the skin and is critical for appropriate immune response of myeloid and lymphoid cells. Researchers believe that the loss of appropriate function of the cathepsin C gene results in an altered immune response to infection. In addition, the altered gene may affect the integrity of the junctional epithelium surrounding the tooth.

A closely related disease, Haim-Munk syndrome, also exhibits palmoplantar keratosis, progressive periodontal disease, recurrent skin infections, and several skeletal malformations. In this syndrome, the skin manifestations are more severe and the periodontal disease is milder. Studies have demonstrated that Haim-Munk syndrome and many examples of prepubertal periodontitis also exhibit mutation of the cathepsin C gene and represent allelic variants of the mutated gene responsible for Papillon-Lefèvre syndrome.

References: Shafer’s Textbook of Oral 9th edition

Photo credits: Dr Karthikeyan,PG final year Periodontics,Saveetha dental College, Chennai

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