Papillon-Lefevre syndrome: Case series

Abstract

Papillon-Lefevre syndrome (PLS) is an exceptional autosomal recessive disorder characterized by palmoplantar keratinization and premature loss of deciduous and permanent teeth. The palmoplantar keratoderma commonly has its onset between the ages of 1 and 4 years with severe periodontitis initiating at 3 or 4 years old. Parental consanguinity has been demonstrated in 20% to 40% of the cases. Management and preservation of teeth in such patients is a challenge to periodontists. Genetic studies have shown that mutation in the major gene locus of chromosome 11q14.1-q14.3 with the loss of function of the Cathepsin-C (CTSC) gene is responsible for PLS. An early diagnosis of the syndrome can help preserve the teeth through early institution of treatment, using a multidisciplinary approach. We hereby present four cases having all the characteristic features of the syndrome.

Keywords: Palmoplantar hyperkeratosis; Papillon-Lefevre syndrome; periodontitis; precocious loss of the dentition.

Figure 1

Clinical image shows increased keratinization of skin over the finger joints and keratotic plaques involving the ventral surface of the palm

Figure 2

Clinical image shows Extension of the keratotic plaques over the dorsal and ventral surface of both the feet

Figure 3

Clinical image showing knees having well demarcated scaly hyperkeratotic lesions

Figure 4

Clinical image showing erythematous gingiva

Figure 5

Orthopantomogram showing multiple permanent teeth missing with generalized bone loss in relation to the teeth present giving them ‘floating-in-air’ appearance

Figure 6

Clinical image showing profile view of case 1 wearing removable partial denture at 7 years follow up visit

Figure 7

Keratotic plaques involving the entire ventral surface of the palms and soles

Figure 8

Clinical image shows increased keratinization of skin over the finger joints and dorsal surface of both the feet with knees showing well demarcated erythematous scaly hyperkeratotic lesions

Figure 9

Clinical image shows missing upper incisor teeth with multiple carious lesionscarious lesions

Figure 10

Orthopantograph showing alveolar bone loss

Figure 11

Clinical image showing keratotic plaque on palmer and planter surface

Figure 12

Clinical image shows severe periodontitis with multiple missing teeth

Figure 13

Orthopantomogram showing multiple missing teeth and generalized bone loss

Figure 14

Clinical image showing keratotic plaque on palmer and planter surface

Figure 15

Clinical image showing inflamed gingiva and suppuration in relation to lateral incisor and canine

Figure 16

Orthopantomogram showing severe bone loss in relation to first and fourth quadrant