Papillon-Lefevre Syndrome in 9 Year Old Peadatric Patient: A Rare Case Presentation with Comprehensive Review

Manjul Tiwari

doi:10.4172/2471-8726.1000103

Abstract

Papillon-Lefevre syndrome is a rare autosomal recessive disorder in which the frequently observed manifestations are palm plantar keratinization and premature loss of both deciduous and permanent teeth. Here I present a rare case report of Papillon-Lefevre syndrome in 9 year old Peadatric patient along with a comprehensive review of the etiology, pathology, clinical features, differential diagnosis and management of the condition.

Highlights

Papillon-Lefevre syndrome (PLS), 1st described by two French physicians Papillon and Lefebvre in 1924, is an extremely rare genodermatosis inherited as an autosomal recessive trait, affecting children between the ages 1-4 years [1]
The disorder is characterized by diffuse palmoplantar keratoderma and premature loss of both deciduous and permanent teeth [2]
Laass et al conducted a genetic study for PL syndrome and found that chromosome 11q14-q21 is responsible for the disease where the cathepsin C gene is located

Summary

Introduction

Papillon-Lefevre syndrome (PLS), 1st described by two French physicians Papillon and Lefebvre in 1924, is an extremely rare genodermatosis inherited as an autosomal recessive trait, affecting children between the ages 1-4 years [1]. The cathepsin-C gene is expressed in epithelial regions commonly affected by PLS such as palms, soles, knees, and keratinized oral gingiva. A 9-year-old boy presented with a chief complaint of spontaneous exfoliation of his deciduous & permanent dentition teeth. He had a history of persistent thickening, flaking and scaling of the skin of his palms and soles associated with recurrently swollen and friable gums since age of [5,6]. There was family history of ichthyosis, palmoplantar keratodermas and spontaneous exfoliation in his younger sibling (Figures 1-3) On oral examination, his gums were edematous, friable and receding with all missing teeth except mandibular and maxillary first molars.

Discussion

Conclusion