{"id":283,"date":"2018-09-23T20:13:35","date_gmt":"2018-09-23T18:13:35","guid":{"rendered":"http:\/\/saspio.org.za\/2018\/09\/23\/periodontitis-in-a-10-year-old-child-papillon-lefevre-syndrome-pls\/"},"modified":"2022-08-18T11:35:31","modified_gmt":"2022-08-18T09:35:31","slug":"periodontitis-in-a-10-year-old-child-papillon-lefevre-syndrome-pls","status":"publish","type":"post","link":"https:\/\/saspio.org.za\/2018\/09\/23\/periodontitis-in-a-10-year-old-child-papillon-lefevre-syndrome-pls\/","title":{"rendered":"Periodontitis in a 10 year old child: Papillon Lefevre Syndrome (PLS)"},"content":{"rendered":"

Introduction<\/strong><\/h3>\n

Papillon Lefevre syndrome (PLS) is a rare condition with an estimated incidence of 1-4 per million.\u00a0 Approximately 300 cases have been reported worldwide and none have been reported from South Africa (Dhanrajani, 2009).<\/p>\n

This autosomal recessive genetic disorder, which was first described by Papillon and Lefevre in 1924, is associated with the loss-of-functional mutation of the lysosomal cysteine protease cathepsin C gene, which can be expressed in the epithelial regions of the palms, soles, knees and keratinised oral gingiva in PLS patients (Dhanrajani, 2009) (Tash, et al., 2013) (Eick, et al., 2014) (Nakano, et al., 2001).<\/p>\n

This mutation results in the reduced activity or no activation of neutrophil elastase, cathepsin G, protease 3 and serine protease 4 (Eick et al, 2014). Features associated with PLS patients include, palmoplantar hyperkeratosis, early loss of primary and permanent teeth, and occasionally calcification of the dura mater (Dhanrajani, 2009) (Hart & Hapira, 1994) (Gorlin, et al., 1964)<\/p>\n

Case details<\/strong><\/h3>\n

A 10 year old male child presented at Mitchells Plain oral health clinic with what appeared to be severe generalised aggressive periodontitis. His parents presented no contributory medical history except for skin lesions that had been managed by his medical doctor since birth. The periodontal presentation of the patient had necessitated a host of systemic investigations that will be presented and aided with the final diagnosis of Papillon Lefevre Syndrome.<\/p>\n

Clinical information<\/strong><\/h3>\n