title: Papillon-Lefevre syndrome: Report of two cases in the same family.
abstract: Papillon-Lefevre syndrome is a very rare syndrome of autosomal recessive inheritance characterized by palmar-plantar hyperkeratosis and early onset of a severe destructive periodontitis, leading to premature loss of both primary and permanent dentitions. Various etiopathogenic factors are associated with the syndrome but a recent report has suggested that the condition is linked to mutations of the cathepsin C gene. Two cases of Papillon-Lefevre syndrome in the same family, having all of the characteristic features, are presented. An 11-year-old girl and a 9-year-old boy presented with the complaints of loose teeth. Both expressed hyperkeratosis of palms, soles, and knees. Severe generalized periodontal destruction, with mobility of teeth, was evident on intraoral examination; orthopantomograph examination showed severe generalized loss of alveolar bone in both the patients.
authors.affiliation: Department of Pedodontics, College of Dental Sciences, Davangere - 577 004, Karnataka, India. nagavenishankar@indiatimes.com
authors.forename: N B
authors.initials: NB
authors.lastname: Nagaveni
authors.forename: R
authors.initials: R
authors.lastname: Suma
authors.forename: N D
authors.initials: ND
authors.lastname: Shashikiran
authors.forename: V V
authors.initials: VV
authors.lastname: Subba Reddy
mesh_terms: D016301:Alveolar Bone Loss / Q000150:complications*; D002648:Child; D002657:Child Development; D005260:Female; D006801:Humans; D008297:Male; D010214:Papillon-Lefevre Disease / Q000150:complications* / Q000503:physiopathology; D010510:Periodontal Diseases / Q000150:complications*; D035781:Siblings; D016388:Tooth Loss / Q000150:complications*